Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family.
Izumi
Kosuke
K
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Nakano
Masao
M
Kosaki
Keisuke
K
Kosaki
Rika
R
Hosogai
Noboru
N
Matsumoto
Hideo
H
Hasegawa
Tomonobu
T
Takahashi
Takao
T
Kosaki
Kenjiro
K
D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000235:genetics; D011247:Pregnancy; D000074122:Short Stature Homeobox Protein; D014158:Transcription, Genetic
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein