𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Phenotypic variation in the del(12p) syndrome

✍ Scribed by Kivlin, Jane D. ;Fineman, Robert M. ;Williams, Marc S. ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
584 KB
Volume
22
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

del (9p) syndrome: Proposed behavior phe
del (9p) syndrome: Proposed behavior phenotype
✍ Chilosi, Anna ;Battaglia, Agatino ;Brizzolara, Daniela ;Cipriani, Paola ;Pfanner πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 169 KB
Phenotypic variation among brothers with
Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
✍ Ruth H. Walker; Hans H. Jung; FranΓ§ois Tison; Soohee Lee; Adrian Danek πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 65 KB

## Abstract McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of __XK__ mutations have yet been uncovered. Here, we report the c

Behavioral phenotype of smith-magenis sy
Behavioral phenotype of smith-magenis syndrome (del 17p11.2)
✍ Smith, Ann C.M.; Dykens, Elizabeth; Greenberg, Frank πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 40 KB πŸ‘ 2 views

## Smith -Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome l7 p11.2. The phenotype of SMS has been well described and includes: a characteristic pattern of physical fe