Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding.

Graul-Neumann, Luitgard M

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