Ontology highlight
ABSTRACT:
SUBMITTER: Liu D
PROVIDER: S-EPMC5550680 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
Liu Deguo D Wang Yajian Y Yang Xiu-An XA Liu Deyun D
Frontiers in genetics 20170808
Silver-Russell syndrome (SRS) is a rare, but well-recognized disease characterized by growth disorder. To date, there are two reports arguing <i>IGF2</i> mutation for the onset of SRS. Herein, we present another sporadic case harboring <i>IGF2</i> mutation. The male proband was the first and only child of a non-consanguineous Chinese couple. He was small for gestational age, with relative macrocephaly at birth. Severe feeding difficulties, low feeding, and growth retardation were revealed during ...[more]