Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
Benito-Sanz
Sara
S
Gorbenko del Blanco
Darya
D
Huber
Celine
C
Thomas
N Simon
NS
Aza-Carmona
Miriam
M
Bunyan
David
D
Maloney
Vivienne
V
Argente
Jesús
J
Cormier-Daire
Valérie
V
Campos-Barros
Angel
A
Heath
Karen E
KE
D005260:Female; D018740:Genetic Heterogeneity; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000378:metabolism; D011995:Recombination, Genetic; D017384:Sequence Deletion; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*
D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein; D014157:Transcription Factors