๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion

โœ Scribed by Torisu, Hiroyuki; Iwaki, Akiko; Takeshita, Kenzo; Hiwatashi, Akio; Sanefuji, Masafumi; Fukumaki, Yasuyuki; Hara, Toshiro


Book ID
122788753
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
308 KB
Volume
34
Category
Article
ISSN
0387-7604

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


A 5-year-old girl with interstitial dele
โœ Schinzel, Albert; Gundelfinger, Ronnie; Dutly, Fabrizio; Baumer, Alessandra; Bin ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 23 KB ๐Ÿ‘ 2 views

An interstitial deletion of segment 3p14 (breakpoints 3p21.1 and 3p13) was found in a 5-year-old short, microcephalic, and mentally retarded girl with a pattern of anomalies comprising a wide forehead, short upslanting palpebral fissures, small nose and ears, hypoplasia of larynx, trachea, and bronc