Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Michael Hankerd"'
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 16, Iss 2, Pp 199-204 (2015)
We report on the molecular detection of two microduplications involving chromosomes Xp21.1–Xp21.2 and 17p12 in a 35-year-old female with clinical phenotype of Charcot–Marie–Tooth disease type 1A (CMT1A) documented by chromosomal microarray anal
Externí odkaz:
https://doaj.org/article/e8fd60b51f92434cb0ff81b180c59a3b
Autor:
Karoline S. Puder, Mili Thakur, Bernard Gonik, Salah A.D. Ebrahim, Henry Adekola, Elena Bronshtein, Michael Hankerd
Publikováno v:
American Journal of Medical Genetics Part A. 176:1985-1990
Terminal deletions of the chromosome 6q27 region are rare genomic abnormalities, linked to specific brain malformations and other neurological phenotypes. Reported cases have variable sized genomic deletions that harbor several genes including the DL
Autor:
Pankaj Prasun, Michael Hankerd, Lalitha Sivaswamy, Salah A.D. Ebrahim, Lindsey Scussel, Melissa Kristofice
Publikováno v:
American Journal of Medical Genetics Part A. 164:1815-1820
Homozygous or compound heterozygous microdeletion of 15q13.3 region is a rare but clinically recognizable syndrome manifested by profound intellectual disability, muscular hypotonia, intractable seizures, and visual impairment. We identified a compou