- Langer mesomelic dysplasia
- an autosomal recessive syndrome consisting of aplasia or hypoplasia of the ulna, the fibula, and sometimes the mandible, with displacement deformities of the hands and feet.
Medical dictionary. 2011.
Medical dictionary. 2011.
Langer mesomelic dysplasia — Lang·er mesomelic dysplasia (langґər) [Leonard O. Langer, Jr., American radiologist, 1928–2008] see under dysplasia … Medical dictionary
SHOX — Short stature homeobox Isoformen SHOXA, SHOXB Bezei … Deutsch 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
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
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
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