✦ LIBER ✦

SNP array-based homozygosity mapping revealsMCPH1deletion in family with autosomal recessive mental retardation and mild microcephaly

✍ Scribed by Masoud Garshasbi; Mohammad Mahdi Motazacker; Kimia Kahrizi; Farkhondeh Behjati; Seyedeh Sedigheh Abedini; Sahar Esmaeeli Nieh; Saghar Ghasemi Firouzabadi; Christian Becker; Franz Rüschendorf; Peter Nürnberg; Andreas Tzschach; Reza Vazifehmand; Fikret Erdogan; Reinhard Ullmann; Steffen Lenzner; Andreas W. Kuss; H. Hilger Ropers; Hossein Najmabadi

Book ID: 106134216
Publisher: Springer
Year: 2005
Tongue: English
Weight: 380 KB
Volume: 118
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s00439-005-0104-y

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Homozygosity mapping in a family with mi

Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3 - 8q22.1: Redefining a clinical entity

✍ Horn, Denise; Krebsov�, Alice; Kunze, J�rgen; Reis, Andr� 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 67 KB 👁 2 views

A syndrome of microcephaly, progressive postnatal growth deficiency, and mental retardation was observed in two brothers and their cousin from a multiply consanguineous kindred of Lebanese descent. Hypotonia, chorioretinal dystrophy, and myopia were also identified. The severity of the condition var