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Congenital cutis laxa syndrome maps to a novel locus on chromosome 9q13-q21.32

✍ Scribed by Jelani, Musharraf; Tariq, Muhammad; Jan, Iftikhar Ahmad; Ullah, Hazrat; Naeem, Muhammad; Ahmad, Wasim

Book ID: 119293697
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 347 KB
Volume: 61
Category: Article
ISSN: 0923-1811
DOI: 10.1016/j.jdermsci.2010.11.014

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## Abstract We have recently described a novel autosomal recessive disorder, lethal congenital contractural syndrome type 2 (LCCS2) (OMIM 607598), in a large Israeli Bedouin kindred. The phenotype, which is lethal in the neonatal period, is distinguished by the presence of a markedly distended urin