Human genes for asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 4 [DOID:0110088]
An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.
Synonyms: asphyxiating thoracic dystrophy 4, DOID:0110088, ATD4, SRTD4, short-rib thoracic dysplasia 4 with or without polydactyly ...