1 |
Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations.
62
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Qu B...Yang D
|
35238153 |
2022 |
2 |
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis.
62
|
Yanagida K...Ishii S
|
36173926 |
2022 |
3 |
A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies.
62
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Raza R...Ahmad N
|
35926655 |
2022 |
4 |
Two siblings with the skin fragility woolly hair syndrome.
62
|
Askin O...Serdaroglu S
|
35869672 |
2022 |
5 |
A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.
62
|
Ou S...Gusdorf L
|
35574671 |
2022 |
6 |
Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.
62
|
Gao J...Chen L
|
35800280 |
2022 |
7 |
Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.
62
|
Vermeer MCSC...Bolling MC
|
35325485 |
2022 |
8 |
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia.
62
|
Alsaleem BM...Alshamrani AS
|
34414925 |
2022 |
9 |
Carvajal Syndrome- A Variant of Naxos Disease: A Case Report.
62
|
Mandal KD...Shrestha P
|
35210635 |
2022 |
10 |
Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.
62
|
Liang J...Yao Z
|
34601768 |
2022 |
11 |
Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis.
62
|
Yang M...Shao X
|
35571060 |
2022 |
12 |
Clinical and Molecular Aspects of Naxos Disease.
62
|
Protonotarios I...Tsatsopoulou A
|
34776086 |
2022 |
13 |
Update of recent findings in genetic hair disorders.
62
|
Hayashi R...Shimomura Y
|
34676598 |
2022 |
14 |
Type 4 Woolly Hair-Palmoplantar Keratoderma Syndrome: A Rare Entity.
62
|
Hassanandani T...Kar BR
|
35283492 |
2021 |
15 |
Co-Occurrence of Chronic Mucocutaneous Candidiasis with Woolly Hair.
62
|
Gaurav V...Grover C
|
34901186 |
2021 |
16 |
Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies.
62
|
Akiyama M
|
33988877 |
2021 |
17 |
Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene.
62
|
Piquer-Garcia J...Evole-Buselli M
|
33017051 |
2021 |
18 |
Arrhythmogenic Right Ventricular Cardiomyopathy in Pediatric Patients: An Important but Underrecognized Clinical Entity.
62
|
Te Riele ASJM...Tsatsopoulou A
|
34926342 |
2021 |
19 |
Novel small-insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis.
62
|
Lv H...Cheng R
|
32901930 |
2020 |
20 |
Case of autosomal recessive woolly hair/hypotrichosis with a homozygous c.736T>A mutation of LIPH caused by maternal uniparental disomy of chromosome 3.
62
|
Tahara U...Kubo A
|
32783278 |
2020 |
21 |
Naxos disease - a narrative review.
62
|
Leopoulou M...Magnusson P
|
32966140 |
2020 |
22 |
Association of Topical Minoxidil With Autosomal Recessive Woolly Hair/Hypotrichosis Caused by LIPH Pathogenic Variants.
62
|
Taki T...Akiyama M
|
32667621 |
2020 |
23 |
A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome.
62
|
Taher ZA...Alshumrani M
|
33114497 |
2020 |
24 |
The curly coat phenotype of the Ural Rex feline breed is associated with a mutation in the lipase H gene.
62
|
Manakhov AD...Rogaev EI
|
32463158 |
2020 |
25 |
Postnatal Woolly Hair: A Key to Diagnosis in Giant Axonal Neuropathy.
62
|
Allegue F...Zulaica A
|
32522339 |
2020 |
26 |
Unusual Clinical Presentation of Autosomal Recessive Woolly Hair.
62
|
Alsharif O...Kaki AA
|
32258056 |
2020 |
27 |
Woolly Hair Nevus with Trichotillomania in a 9-Year-Old Boy: A Rare Case Association.
62
|
Saini S...Yadav D
|
32684682 |
2020 |
28 |
Woolly hair nevus: case report and review of literature.
62
|
Gomes TF...Henrique M
|
32155026 |
2020 |
29 |
Visual Dermatology: Woolly Hair Nevus.
62
|
Garcia-Souto F...Escudero-Ordonez J
|
31729913 |
2019 |
30 |
Wooly hair nevus, Post's Type 2.
62
|
Kamat D...Sendhil Kumaran M
|
30697702 |
2019 |
31 |
Biallelic mutations in the LPAR6 gene causing autosomal recessive wooly hair/hypotrichosis phenotype in five Pakistani families.
62
|
Khan GM...Ayub M
|
31077348 |
2019 |
32 |
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.
62
|
Vakkilainen S...Hannula-Jouppi K
|
31037311 |
2019 |
33 |
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy.
62
|
Guerra L...Castiglia D
|
31073624 |
2019 |
34 |
Keratoderma and woolly hair: an important clue for the presence of cardiac pathology.
62
|
Ramot Y
|
31025732 |
2019 |
35 |
A case of woolly hair nevus, multiple linear pigmentation, and epidermal nevi with somatic HRAS p.G12S mutation.
62
|
Nishihara K...Kubo A
|
30864170 |
2019 |
36 |
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
62
|
Maruthappu T...Kelsell DP
|
30382575 |
2019 |
37 |
Woolly hair, palmoplantar keratoderma, skin fragility, and perioral fissures in a toddler.
62
|
Gupta V...Sharma VK
|
30895675 |
2019 |
38 |
Identification of a novel splice site mutation in the LIPH gene in a Japanese family with autosomal recessive woolly hair.
62
|
Asano N...Shimomura Y
|
29974973 |
2019 |
39 |
Diagnosis of Woolly Hair Using Trichoscopy.
62
|
Mathur M...Shah J
|
30719357 |
2019 |
40 |
Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2.
62
|
Schlaweck AE...Betz RC
|
31790498 |
2019 |
41 |
Woolly Hair Nevus Type 2: Rare Entity.
62
|
Taj FT...Kologi S
|
30820133 |
2019 |
42 |
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
62
|
Morimoto M...Malicdan MCV
|
30401460 |
2018 |
43 |
Trichoscopy in Hair Shaft Disorders.
62
|
Rudnicka L...Rakowska A
|
30201151 |
2018 |
44 |
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India.
62
|
Peter DCV...Smith FJD
|
30133754 |
2018 |
45 |
A Case of Progressive Evolution of Multiple Woolly Hair Nevi in a Child.
62
|
Muhammed N...Khopkar US
|
30386079 |
2018 |
46 |
Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review.
62
|
Mizukami Y...Sugawara K
|
29464811 |
2018 |
47 |
Naxos disease: from the origin to today.
62
|
Li GL...Fontaine GH
|
29747658 |
2018 |
48 |
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families.
62
|
Ahmad F...Ahmad W
|
28425126 |
2018 |
49 |
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis.
62
|
Yu X...Li M
|
28899683 |
2018 |
50 |
Trichohepatoenteric Syndrome
62
|
Fabre A...Badens C
|
29334452 |
2018 |