Isidor, B

Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene. [electronic resource] - American journal of medical genetics. Part A Jul 2010 - 1847-8 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.33480 doi


CREB-Binding Protein--genetics
Female
Hirschsprung Disease--complications
Humans
Infant, Newborn
Male
Pregnancy
Rubinstein-Taybi Syndrome--complications
Sequence Deletion--genetics