Holoprosencephaly (HPE) is the most common developmental defect of the forebrain
characterized by inadequate or absent midline division of the forebrain into cerebral …

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 …

Holoprosencephaly (HPE) is a complex genetic disorder of the developing forebrain
characterized by high phenotypic and genetic heterogeneity. HPE was initially defined as an …

Holoprosencephaly (HPE) is a brain malformation in which the prosencephalon or
embryonic forebrain fails to divide into 2 separate lobes between the third and fourth weeks …

D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets V, Nizard S, Michaud JL, Lemyre
E. Whole‐genome array CGH identifies pathogenic copy number variations in fetuses with …

Holoprosencephaly (HPE) is a congenital defect of the brain characterized by incomplete
cleavage of the embryonic forebrain into left and right hemispheres. Although a substantial …

Bertolacini CDP, Ribeiro‐Bicudo LA, Petrin A, Richieri‐Costa A, Murray JC. Clinical findings
in patients with GLI2 mutations–phenotypic variability. Mutations in the human GLI2 gene …

HPE encompasses a wide spectrum of forebrain and midline defects, with an accompanying
wide spectrum of clinical manifestations. A coordinated, multidisciplinary care team is …

Holoprosencephaly (HPE) is the most common structural malformation of the developing
forebrain in humans and is typically characterized by different degrees of hemispheric …