✦ LIBER ✦

Distal arthrogryposis type II D in three generations of a Brazilian family

✍ Scribed by Pagnan, Nina Amalia Brancia ;Gollop, Thomaz Rafael ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 460 KB
Volume: 26
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320260316

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Point mutation in the MITF gene causing

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family

✍ Lalwani, Anil K.; Attaie, Ali; Randolph, Frederick T.; Deshmukh, Dilip; Wang, Cy 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS

Mapping to distal Xq28 of nonspecific X-

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: Linkage analysis and clinical findings in a three-generation Sardinian family

✍ Russo, S. ;Cogliati, F. ;Cavalleri, F. ;Cassitto, M.G. ;Giglioli, R. ;Toniolo, D 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 2 views

Families with mentally retarded males found to be negative for FRAXA and FRAXE mutations are useful in understanding the genetic basis of X-linked mental retardation. According to the most recent data (updated to 1999), 69 MRX loci have been mapped and 6 genes cloned. Here we report on a linkage stu

Autosomal dominant spondylocostal dysost

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

✍ Zoran S. Gucev; Velibor Tasic; Nada Pop-Jordanova; Duncan B. Sparrow; Sally L. D 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 1 views

Synpolydactyly (type II syndactyly) with

Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: Report on a family with eight affected members in four generations

✍ Camera, Gianni ;Camera, Andrea ;Pozzolo, Silvano ;Costa, Margherita ;Mantero, Re 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 360 KB 👁 1 views

We describe a new family with synpolydactyly (syndactyly type 11) with 8 affected members in 4 generations. Aplasiahypoplasia of the middle phalanges of the toes was also noted. In our opinion, this anomaly represents a frequent manifestation of synpolydactyly. No other major skeletal or extraskelet