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Netherton syndrome: mutation analysis of two Taiwanese families

✍ Scribed by Shuan-Pei Lin; Shu-Yi Huang; Mei-Eng Tu; Yu-Hung Wu; Cheng-Yueh Lin; Hsiang-Yu Lin; Guey-Jen Lee-Chen

Book ID
106078732
Publisher
Springer-Verlag
Year
2007
Tongue
English
Weight
332 KB
Volume
299
Category
Article
ISSN
0340-3696

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## Abstract Crouzon syndrome is an autosomal‐dominant disorder that causes premature fusion of the cranial suture. Crouzon, Pfeiffer, and Apert syndromes are caused by mutations in the extracellular, third immunoglobulin‐like domain, and adjacent linker regions (exons IIIa and IIIc) of the fibrobla