Lйri-Weill dyschondrosteosis
- Lйri-Weill dyschondrosteosis
- a dominantly inherited syndrome caused by mutations in pseudoautosomal region 1 (locus: Ypter-p11.2, Xpter-p22.32), characterized by short stature, mesomelic shortening, and Madelung deformity. Mutations affect the SHOX and SHOXY genes, which encode transcription factors important for skeletal growth. Called also Lйri-Weill syndrome.
Medical dictionary.
2011.
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Lйri-Weill dyschondrosteosis (syndrome) — Lй·ri Weill dyschondrosteosis (syndrome) (la reґ vīlґ) [A. Lйri; Jean A. Weill, French physician, 20th century] see under dyschondrosteosis … Medical dictionary
Léri-Weill dyschondrosteosis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 31950 ICD10 = ICD9 = ICD9|756.59 ICDO = OMIM = 127300 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Léri Weill dyschondrosteosis or LWD is a rare genetic disorder which results in… … Wikipedia
dyschondrosteosis — A skeletal dysplasia, more severe in females and with a female preponderance, characterized by bowing of radius, dorsal dislocation of the distal ulna with limited movement of the elbow and wrist ( … Medical dictionary
Lйri-Weill syndrome — see under dyschondrosteosis … Medical dictionary
Short stature homeobox gene — or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). PathologyThe gene was first found during a search for the cause of short stature… … Wikipedia
SHOX — Short stature homeobox Isoformen SHOXA, SHOXB Bezei … Deutsch Wikipedia
Pseudoautosomale Region — Ausschnitt aus einer menschlichen Metaphase Spreitung. Eine Region in der pseudoautosomalen Region auf den kurzen Armen des X Chromosoms (links) und des Y Chromosoms (rechts oben) wurde mit Fluoreszenz in situ Hybridisierung nachgewiesen (grüne… … Deutsch Wikipedia
Pseudoautosomale Regionen — Ausschnitt aus einer menschlichen Metaphase Spreitung. Eine Region in der pseudoautosomalen Region auf den kurzen Armen des X Chromosoms (links) und des Y Chromosoms (rechts oben) wurde mit Fluoreszenz in situ Hybridisierung nachgewiesen (grüne… … Deutsch Wikipedia
Madelung's deformity — Infobox Disease Name = PAGENAME Caption = Madelung deformation, a type of bone malformation associated with both SHOX and SHOXY genes mutations. DiseasesDB = 32115 ICD10 = ICD10|Q|74|0|q|65 ICD9 = ICD9|755.54 ICDO = OMIM = 127300 MedlinePlus =… … Wikipedia
André Léri — (1875 September 8, 1930} was a French neurologist who was born in Paris. He received he doctorate in 1904 from the University of Paris where he studied under Joseph Babinski (1857 1932) and Pierre Marie (1853 1940). During World War I, Léri was… … Wikipedia