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Coffin-Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation

✍ Scribed by Tzeng, Michael; du Souich, Christèle; Cheung, Helen Wing-Hong; Boerkoel, Cornelius F.


Book ID
121671555
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
332 KB
Volume
164
Category
Article
ISSN
1552-4825

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Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. The hearing loss is associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct (dilated vestibular aqueduct,