1 |
The Rapp-Hodgkin syndrome results from mutations of the TP63 gene.
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5
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Bougeard G...Frebourg T
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12939657 |
2003 |
2 |
Heterozygous mutation in the SAM domain of p63 underlies Rapp-Hodgkin ectodermal dysplasia.
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57
5
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Kantaputra PN...McGrath JA
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12766194 |
2003 |
3 |
An intermediate phenotype between Hay-Wells and Rapp-Hodgkin syndromes in a patient with a novel P63 mutation: confirmation of a variable phenotypic spectrum with a common aetiology.
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57
5
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Prontera P...Sensi A
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19239083 |
2008 |
4 |
A new mutation in TP63 is associated with age-related pathology.
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57
5
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Holder-Espinasse M...Manouvrier-Hanu S
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17609671 |
2007 |
5 |
Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.
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57
5
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Bertola DR...van Bokhoven H
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15200513 |
2004 |
6 |
AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.
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5
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Bertola DR...Gonzalez CH
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2000 |
7 |
Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.
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57
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8 |
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10 |
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12 |
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13 |
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15 |
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders.
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Niculescu L...Giehl KA
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2019 |
16 |
Isoforms of DeltaNp63 and the migration of ocular limbal cells in human corneal regeneration.
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17 |
Rapp-Hodgkin and AEC syndromes due to a new frameshift mutation in the TP63 gene.
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18 |
Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.
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19 |
Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.
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20 |
Ectodermal dysplasia and multiple defects (Rapp-Hodgkins type).
57
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Wannarachue N...Smith DW
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1972 |
21 |
Hypohidrotic ectodermal dysplasia with multiple associated anomalies.
57
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1971 |
22 |
Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.
57
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23 |
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients.
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Sutton VR...Bacino CA
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2009 |
24 |
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.
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62
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Rinne T...van Bokhoven H
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2008 |
25 |
Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings.
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62
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Steele JA...Kwong PC
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2005 |
26 |
Rapp-Hodgkin syndrome and the tail of p63.
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62
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Chan I...Kivirikko S
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2005 |
27 |
Rapp-Hodgkin syndrome.
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62
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Kim G...Shin H
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2004 |
28 |
Use of FACIAL ARTERY MUSCULOMUCOSAL and Turbinate Flaps for Rapp Hodgkin Syndrome.
62
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Saboury M...Saboury M
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36117904 |
2022 |
29 |
A novel TP63 variant in a patient with ankyloblepharon-ectodermal defect-cleft lip/palate syndrome and Rapp-Hodgkin syndrome-like ectodermal dysplasia.
62
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Hori A...Hata K
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35595744 |
2022 |
30 |
Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia.
62
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Abdelli W...Mokni M
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35310322 |
2022 |
31 |
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.
62
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Hoffmann A...Rudnicka L
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34501349 |
2021 |
32 |
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
62
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Jin JY...Tang JY
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31420900 |
2019 |
33 |
Rapp Hodgkin Syndrome.
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Chatterjee M...Mukherjee S
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28584763 |
2017 |
34 |
A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes.
62
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Brueggemann FB...Bartsch O
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26882220 |
2016 |
35 |
Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia.
62
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Karthikeyani S...Yuvaraja BA
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27080974 |
2016 |
36 |
High-Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
62
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Theiler M...Frieden IJ
|
26861896 |
2016 |
37 |
Cicatricial external auditory canal stenosis caused by ectodermal dysplasia: Rapp-Hodgkin syndrome.
62
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Sosulski AB...Hayes JD
|
23780599 |
2013 |
38 |
Two interesting cases of EEC syndrome.
62
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Iqbal Ali M...Ali I
|
25737881 |
2013 |
39 |
Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome.
62
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van Straten C...Butow KW
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23662261 |
2013 |
40 |
Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.
62
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Knaudt B...Berneburg M
|
22759387 |
2012 |
41 |
Prosthetic rehabilitation of a child with Rapp-Hodgkin syndrome.
62
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Dalben Gda S...Carrara CF
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22828770 |
2012 |
42 |
Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.
62
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Vera-Carbonell A...Lopez-Exposito I
|
22342398 |
2012 |
43 |
Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.
62
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Serra V...Terrinoni A
|
22069181 |
2011 |
44 |
A newborn with overlapping features of AEC and EEC syndromes.
62
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Celik TH...Yurdakok M
|
22065614 |
2011 |
45 |
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate.
62
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Kantaputra PN...Sripathomsawat W
|
21567929 |
2011 |
46 |
Recognition of p63 by the E3 ligase ITCH: Effect of an ectodermal dysplasia mutant.
62
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Bellomaria A...Melino S
|
20855944 |
2010 |
47 |
Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
62
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Clements SE...McGrath JA
|
20491771 |
2010 |
48 |
TP63-Related Disorders
62
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Sutton VR...van Bokhoven H
|
20556892 |
2010 |
49 |
Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC).
62
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Rinne T...van Bokhoven H
|
19676060 |
2009 |
50 |
Rapp-Hodgkin syndrome: clinical and dental findings.
62
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Tosun G...Elbay U
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19953814 |
2009 |