𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Autosomal dominant inheritance in setleis syndrome

✍ Scribed by Masuno, Mitsuo ;Imaizumi, Kiyoshi ;Makita, Yoshio ;Nakamura, Mihoko ;Kuroki, Yoshikazu


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
388 KB
Volume
57
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Autosomal dominant inheritance in a larg
✍ Luitgard M. Graul-Neumann; Karola M. Stieler; Ulrike Blume-Peytavi; Andreas Tzsc πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 336 KB πŸ‘ 1 views

## Abstract Focal facial dermal dysplasia (FFDD) (OMIM 227260) is a rare ectodermal disorder characterized by congenital bitemporal scar‐like depressions resembling forceps marks and variable additional facial manifestations. No gene defects or gene loci for FFDD are known to date. We report on a l

Williams syndrome: Autosomal dominant in
✍ Morris, Colleen A. ;Thomas, Ioan T. ;Greenberg, Frank πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 422 KB πŸ‘ 2 views
Heterotaxia syndrome and autosomal domin
✍ Alonso, Sandrine ;Pierpont, Mary Ella ;Radtke, Wolfgang ;Martinez, JosΓ© ;Chen, S πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 393 KB πŸ‘ 2 views

Previous familial cases of recurrent heterotaxia have suggested an autosomal recessive or exceptionally X-linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with autosomal dominant inheritance. Among these, four families have more than one case of

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

Autosomal dominant inheritance of the Aa
✍ Grier, Robert E. ;Farrington, Frank H. ;Kendig, Robert ;Mamunes, Peter ;Opitz, J πŸ“‚ Article πŸ“… 1983 πŸ› John Wiley and Sons 🌐 English βš– 486 KB πŸ‘ 2 views