✦ LIBER ✦

Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in hutterites

✍ Scribed by Schurig, Verena ;Van Orman, Alan ;Bowen, Peter ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1981
Tongue: English
Weight: 648 KB
Volume: 9
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320090109

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Familial paroxysmal exercise-induced dys

Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance

✍ T. Perniola; L. Margari; M.G. de Iaco; A. Presicci; P. Ventura; E. Ferrannini; G 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB

## Abstract Only few sporadic and familial cases of paroxysmal exercise‐induced dyskinesia (PED) have been described in literature. PED associated with familial epilepsy has been rarely reported. We describe a family in which six members in different generations were affected by a long‐lasting PED,

Agonadism in two sisters with XY gonosom

Agonadism in two sisters with XY gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: A new autosomal recessive syndrome

✍ Kennerknecht, Ingo ;von Saurma, Petra ;Brenner, Rolf ;Just, Walter ;Barbi, Gotth 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 782 KB