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Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a 1-cM Interval on Chromosome 1q42-43

✍ Scribed by Ruti Parvari; Eli Hershkovitz; Adam Kanis; Rafael Gorodischer; Shlomit Shalitin; Val C. Sheffield; Rivka Carmi

Book ID: 117852462
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 133 KB
Volume: 63
Category: Article
ISSN: 0002-9297
DOI: 10.1086/301915

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✍ Narkis, Ginat ;Landau, Daniella ;Manor, Esther ;Elbedour, Khalil ;Tzemach, Anna 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 138 KB 👁 1 views

## 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