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A Mouse Model Demonstrates a Multigenic Origin of Congenital Hypothyroidism

✍ Scribed by Amendola, Elena; De Luca, Pasquale; Macchia, Paolo Emidio; Terracciano, Daniela; Rosica, Annamaria; Chiappetta, Gennaro; Kimura, Shioko; Mansouri, Ahmed; Affuso, Andrea; Arra, Claudio; Macchia, Vincenzo; Di Lauro, Roberto; De Felice, Mario

Book ID
118161276
Publisher
Endocrine Society
Year
2005
Tongue
English
Weight
461 KB
Volume
146
Category
Article
ISSN
0013-7227

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## Abstract Schwartz–Jampel syndrome (SJS) is an autosomal‐recessive condition characterized by muscle stiffness and chondrodysplasia. It is due to loss‐of‐function hypomorphic mutations in the __HSPG2__ gene that encodes for perlecan, a proteoglycan secreted into the basement membrane. The origin