A genetic basis of congenital isolated hypogonadotropic hypogonadism (CHH) can be
defined in almost 50% of cases, albeit not necessarily the complete genetic basis. Next …

The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving
30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of …

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

Last year marked the 40th anniversary of the publication of the first print edition of Mendelian
Inheritance in Man (MIM). 1 This seems an appropriate juncture at which to review its …

The Snf2 family of helicase-related proteins includes the catalytic subunits of ATP-
dependent chromatin remodelling complexes found in all eukaryotes. These act to regulate …

Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of
neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes …

Background CHARGE syndrome is a highly variable, multiple congenital anomaly
syndrome, of which the complete phenotypic spectrum was only revealed after identification …

The craniofacial region is assembled through the active migration of cells and the
rearrangement and sculpting of facial prominences and pharyngeal arches, which …

CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation
of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities …