๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Characterization of a familial balanced rec(13) in a child with mild MR and his half-sibling with two structurally rearranged chromosomes 13

โœ Scribed by S. Mehra; L. Christ; L. Jeng; A. B. Zinn; S. Schwartz


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
104 KB
Volume
137A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


Chromosome rearrangements in Cornelia de
โœ Cheryl DeScipio; Maninder Kaur; Dinah Yaeger; Jeffrey W. Innis; Nancy B. Spinner ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 200 KB ๐Ÿ‘ 2 views

## Abstract Cornelia de Lange syndrome (CdLS; OMIM 122470) is a dominantly inherited disorder characterized by multisystem involvement, cognitive delay, limb defects, and characteristic facial features. Recently, mutations in __NIPBL__ have been found in โˆผ50% of individuals with CdLS. Numerous chro