Gene: [12p1/ATD] asphyxiating thoracic dystrophy (of newborn); chondroectodermal dysplasia-like syndrome; Jeune syndrome; thoracic-pelvic-phalangeal dystrophy;

COM

Nagai-1995 described a 5-year-old Japanese boy who had radiographic findings characteristic of Jeune syndrome in association with a de novo del(12)(p11.21p12.2)."

REF

PAT,LOC,LIN "Nagai T &: Am J Med Genet, 55, 16-18, 1995

KEY

bone, derm, devd

CLA

unknown, basic

LOC

12 p12.2-11.21

MIM

MIM: 208500