TY - GEN AU - Graul-Neumann,Luitgard M AU - Bach,Alexia AU - Albani,Michael AU - Ringe,Hannelore AU - Weimann,Andreas AU - Kress,Wolfram AU - Hiort,Olaf AU - Bartsch,Oliver TI - Boy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding SN - 1552-4833 PY - 2009///0923 KW - Brain Injuries KW - complications KW - Chromogranins KW - Congenital Hypothyroidism KW - Craniofacial Dysostosis KW - Fatal Outcome KW - GTP-Binding Protein alpha Subunits, Gs KW - genetics KW - Genetic Predisposition to Disease KW - Humans KW - Hydrocephalus KW - Infant KW - Intracranial Hemorrhages KW - Male KW - Mutation KW - Pseudohypoparathyroidism N1 - Publication Type: Case Reports; Journal Article UR - https://doi.org/10.1002/ajmg.a.32889 ER -