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Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

✍ Scribed by L Avrahami; S Maas; M Pasmanik-Chor; L Rainshtein; N Magal; JHS Smitt; J Van Marle; M Shohat; L Basel-Vanagaite

Book ID
110888608
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
366 KB
Volume
74
Category
Article
ISSN
0009-9163

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## Abstract Yunis–Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. The molecular basis is unknown. We report on a newborn infant with previously undescribed findings