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 …

Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the
presence of a small eye within the orbit. The combined birth prevalence of these conditions …

Holoprosencephaly (HPE) has captivated the imagination of Man for millennia because its
most extreme manifestation, the single‐eyed cyclopic newborn infant, brings to mind the …

Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar
holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary …

Holoprosencephaly (HPE) is the most common malformation of the prosencephalon in
humans. It is characterized by a continuum of structural brain anomalies resulting from the …

GLI transcription factors have important roles in intracellular signaling cascade, acting as the
main mediators of the HH-GLI signaling pathway. This is one of the major developmental …

In vertebrate hedgehog signaling, hedgehog ligands are processed to become bilipidated
and then multimerize, which allows them to leave the signaling cell via Dispatched 1 and …

Since the discovery of the first gene causing holoprosencephaly (HPE), over 500 patients
with mutations in genes associated with non‐chromosomal, non‐syndromic HPE have been …

Background Holoprosencephaly (HPE) is the most common forebrain defect in humans. It
results from incomplete midline cleavage of the prosencephalon. Methods A large European …

Context: GLI2 is a transcription factor downstream in Sonic Hedgehog signaling, acting early
in ventral forebrain and pituitary development. GLI2 mutations were reported in patients with …