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See Latest ArticlesBoy with pseudohypoparathyroidism type 1a caused by GNAS gene mutation (deltaN377), Crouzon-like craniosynostosis, and severe trauma-induced bleeding
American Journal of Medical Genetics, 06/17/09
Graul-Neumann LM et al. - Results of molecular studies of craniosynostosis genes (FGFR2, FGFR3) and of numerous genetic variants predisposing to bleeding disorders were normal. The authors question whether craniosynostosis and trauma-induced bleeding disorder may be manifestations of PHP1A, or if the patient had two or three different congenital disorders.
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