Associated Papers
Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
Paulo SS et al.
Clinical Endocrinology, 2015
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Bear KA et al.
Journal of Medical Genetics, 2014
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
Kevelam SH et al.
American Journal of Medical Genetics. Part A, 2012
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