✦ LIBER ✦

Autosomal dominant macrocephaly: Benign familial macrocephaly or a new syndrome?

✍ Scribed by Cole, T. R. P. ;Hughes, H. E.

Publisher: John Wiley and Sons
Year: 1991
Tongue: English
Weight: 911 KB
Volume: 41
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320410128

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Macrocephaly, multiple lipomas, and hema

Macrocephaly, multiple lipomas, and hemangiomata (Bannayan-Zonana syndrome): Genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?

✍ Moretti-Ferreira, Danilo ;Koiffmann, Célia P. ;Souza, Deise H. ;Diament, Aron J. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 396 KB 👁 2 views

Japanese family with an autosomal domina

Japanese family with an autosomal dominant chromosome instability syndrome: A new neurodegenerative disease?

✍ Ishikawa, Shozo ;Ishikawa, Masayo ;Tokuda, Takahiko ;Yoshida, Kunihiro ;Wakui, K 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 474 KB 👁 2 views

Autosomal dominant centronuclear myopath

Autosomal dominant centronuclear myopathy: Report of a new family with clinical features simulating facioscapulohumeral syndrome

✍ Kevin J. Felice; Margaret L. Grunnet 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 2 views

The centronuclear myopathies are a clinically and genetically heterogeneous group of disorders which share similar histological features on muscle biopsy. The familial cases have been classified genetically as X-linked or autosomal in inheritance. The autosomal forms usually have a later onset and m

Boy with syndactylies, macrocephaly, and

Boy with syndactylies, macrocephaly, and severe skeletal dysplasia: Not a new syndrome, but two dominant mutations (GLI3 E543X andCOL2A1 G973R) in the same individual

✍ Sobetzko, Diana; Eich, Georg; Kalff-Suske, Martha; Grzeschik, Karl-Heinz; Supert 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 3 views

An unusual combination of syndactylies, macrocephaly, and severe skeletal dysplasia was observed in a newborn infant. A history of digital anomalies in the father and grandfather lead to the diagnosis of dominantly inherited Greig cephalopolysyndactyly syndrome (GCPS, MIM #175700). Having explained