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Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
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Wiedemann-Steiner Syndrome with a Pathogenic Variant in KMT2A from Taiwan.
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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
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Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case report.
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Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report.
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Wiedemann-Steiner syndrome in two patients from Portugal.
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[Hypertrichosis cubiti in a girl with precocious puberty: Case report].
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Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.
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Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.
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Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
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21 |
Hypertrichosis cubiti, a case report and literature review.
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22 |
Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
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23 |
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
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24 |
A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.
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Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome).
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26 |
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
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Hairy elbows - A case study.
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28 |
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
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Hypertrichosis cubiti: another case of a well-recognized but under-reported entity.
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[Hypertrichosis cubiti (hairy elbows syndrome)].
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31 |
The hairy elbows syndrome: clinical and neuroradiological findings.
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[Two cases of hypertrichosis cubiti].
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33 |
A new case of hairy elbows syndrome (hypertrichosis cubiti).
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34 |
Hairy elbows syndrome.
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Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome.
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36 |
Primary generalized and localized hypertrichosis in children.
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A sporadic form of hypertrichosis cubiti.
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Hairy elbows.
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Hypertrichosis cubiti: a case in a Sri Lankan family.
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A new case of hairy elbows syndrome (Hypertrichosis cubiti).
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41 |
Hairy elbows.
62
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42 |
Hypertrichosis "cubiti" with facial asymmetry.
62
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43 |
Hairy elbows syndrome (familial hypertrichosis cubiti).
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[Hypertrichosis of the elbows].
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