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A disorder (achondrogenesis–hypochondrogenesis type II) in which defects in collagen type II lead to abnormal bone growth. The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis. Achondrogenesis type IA is a severe form, usually lethal in early neonatal life, type IB is caused by mutation in the DTDST gene that encodes a sulphate transporter (solute carrier family 26 member 2, SLC26A2, 739 aa) leading to undersulphation of cartilage proteoglycans and diastrophic dysplasia.

Subjects: Medicine and Health.

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