Craniofacial-deafness-hand syndrome revisited
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference2 articles.
1. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
2. Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness
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1. Clinical and genetic characteristics of the first Russian patient with a syndrome of craniofacial dysmorphia-deafness-anomalies of the upper limbs, caused by a mutation in the <i>PAX3</i> gene;Neuromuscular Diseases;2023-10-30
2. Intraoral findings of a patient with Nablus mask-like facial syndrome and dental treatment approaches: a case report and literature review;Journal of Clinical Pediatric Dentistry;2023
3. A Novel PAX3 Variant in a Chinese Pedigree with Nonsyndromic Cleft Lip With or Without Palate;Genetic Testing and Molecular Biomarkers;2021-12-01
4. Neural crest contributions to the ear: Implications for congenital hearing disorders;Hearing Research;2019-05
5. Nablus syndrome: Easy to diagnose yet difficult to solve;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2018-12
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