Combined pituitary hormone deficiency (CPHD) is not a rare disorder, with a frequency of
approximately 1 case per 4,000 live births. However, in most cases, a genetic diagnosis is …

Prokineticin receptor 2 (PROKR2) encodes for a G-protein-coupled receptor that can bind
PROK1 and PROK2. Mice lacking Prokr2 have been shown to present abnormal olfactory …

The etiology of childhood appetitive traits is poorly understood. Early-life epigenetic
processes may be involved in the developmental programming of appetite regulation in …

Introduction Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and
genetically heterogeneous disorder. Deleterious variants in over 50 genes have been …

Combined pituitary hormone deficiency (CPHD) is characterized by deficiency of growth
hormone and at least one other pituitary hormone. Pathogenic variants in more than 30 …

Purpose Congenital hypopituitarism (CH) can present in isolation or with other birth defects.
Mutations in multiple genes can cause CH, and the use of a genetic screening panel could …

Background Heterozygous loss-of-function mutations in the chromodomain helicase DNA-
binding protein 7 (CHD7) gene cause CHARGE syndrome characterized by various …

Congenital hypopituitarism is a genetically heterogeneous condition that is part of a
spectrum disorder that can include holoprosencephaly. Heterozygous mutations in SIX3 …

Combined pituitary hormone deficiency represents a disorder with complex etiology. For
many patients, causes of the disease remain unexplained, despite usage of advanced …

The relationship between congenital defects of the brain and facial anomalies was proven.
The Hedgehog signaling pathway plays a fundamental role in normal craniofacial …