Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding. [electronic resource]
- American journal of medical genetics. Part A Jul 2009
- 1487-93 p. digital
Publication Type: Case Reports; Journal Article
1552-4833
10.1002/ajmg.a.32889 doi
Brain Injuries--complications Chromogranins Congenital Hypothyroidism--complications Craniofacial Dysostosis--complications Fatal Outcome GTP-Binding Protein alpha Subunits, Gs--genetics Genetic Predisposition to Disease Humans Hydrocephalus--complications Infant Intracranial Hemorrhages--complications Male Mutation Pseudohypoparathyroidism--complications