Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2

Homozygosity mapping of lethal congenita

Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13

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

## 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