The Hedgehog (HH) signalling pathway is one of the major pathways controlling cell
differentiation and proliferation during human development. This pathway is complex, with …

IGF-II is the predominant IGF ligand regulating prenatal growth in all vertebrates, including
humans, but its central role in placental development has confounded efforts to fully …

Patients with a combination of holoprosencephaly and polydactyly, but with apparently
normal chromosomes, may be clinically diagnosed with holoprosencephaly–polydactyly …

Loss‐of‐function mutations of GLI2 are associated with features at the mild end of the
holoprosencephaly spectrum, including abnormal pituitary gland formation and/or function …

OBJECTIVE: We sought to assess the role of ultrasound in the prenatal characterization of
fetal malformations of the upper extremities (MUE). STUDY DESIGN: Ultrasound findings …

Pseudotrisomy 13 syndrome is characterised by holoprosencephaly with or without
polydactyly, but with a normal karyotype. The genetic cause of this syndrome remains …

Holoprosencephaly (HPE) is the most common structural malformation of the developing
forebrain in humans (Muenke and Beachy, 2001; Gropman and Muenke, 2005). It is …

We report a new case of a fetus with holoprosencephaly-polydactyly syndrome, also known
as pseudo-trisomy 13 syndrome, and no other apparent abnormalities except for septal …

Overlapping holoprosencephaly‐polydactyl syndrome and asphyxiating thoracic dystrophy, an
incidental finding in late prenatal ultrasound: A rare case report - Sereke - 2021 - Clinical Case …

Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder of blood vessels.
It is characterized by mucocutaneous telangiectases, recurrent epistaxis, gastrointestinal …