𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Further evidence of autosomal dominant inheritance of the nonsyndromal anorectal malformations

✍ Scribed by Robb, Laura; Teebi, Ahmad S.


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
2 KB
Volume
79
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19981012)79:5<400::aid-ajmg14>3.0.co;2-v

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Autosomal dominant nonsyndromic hearing
✍ Van Laer, Lut; McGuirt, Wyman T.; Yang, Tao; Smith, Richard J.H.; Van Camp, Guy πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 27 KB πŸ‘ 2 views

Nearly all genes that have been localized for autosomal dominantly inherited hearing impairment are characterized by postlingual hearing loss that is progressive in nature. This auditory phenotype is in contrast to that of genes localized for autosomal recessive hearing impairment, which generally c

Dandy-Walker malformation with postaxial
✍ Cavalcanti, D.P.; SalomοΏ½o, M.A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 9 KB πŸ‘ 1 views

We describe an infant with Dandy-Walker malformation and tetramelic postaxial polydactyly type 1A. Parental consanguinity reinforces previous suggestions for autosomal recessive inheritance. Am. J. Med. Genet. 85:183-184, 1999.

Autosomal dominant inheritance of Barber
✍ Dinulos, Mary Beth; Pagon, Roberta A. πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 22 KB πŸ‘ 2 views

We report on a mother-to-son transmission of the Barber-Say syndrome, a finding that strongly supports dominant inheritance of this rare disorder. The characteristic facial changes, small ears, hirsutism, and redundant skin of our patients are consistent with the findings of five reported cases. The

Weaver syndrome: Autosomal dominant inhe
✍ Proud, Virginia K.; Braddock, Stephen R.; Cook, Lola; Weaver, David D. πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 40 KB πŸ‘ 2 views

Weaver syndrome (WS), a condition first described in 1974 by Weaver et al., consists of macrosomia, advanced skeletal age, characteristic pattern of facial and radiographic anomalies, and contractures. Although there have been three reports of close relatives (sibs or both parent and offspring) affe

Inheritance of familial congenital isola
✍ Landau, Daniella; Mordechai, Jacov; Karplus, Michael; Carmi, Rivka πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 13 KB πŸ‘ 1 views

We report on a 3-generation family with 4 members affected with congenital low anorectal malformations. The vertical segregation of the anomalies and the occurrence of affected males and females support autosomal-dominant inheritance, which was suggested previously for this type of congenital anomal