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Pietro Palumbo, Antonio Petracca, Roberto Maggi, Tommaso Biagini, Grazia Nardella, Michele Carmine Sacco, Elia Di Schiavi, Massimo Carella, Lucia Micale, Marco Castori

European journal of human genetics : EJHG 2020;27(7):1113-1120

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Holoprosencephaly: clinical, anatomic, and molecular dimensions.

M Michael Cohen

Birth defects research. Part A, Clinical and molecular teratology 2006;76(9):658-73

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Results for ""Holoprosencephaly""[mesh_terms]

The rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants.

Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.

Case report: a novel mutation in ZIC2 in an infant with microcephaly, holoprosencephaly, and arachnoid cyst.

Management of children with holoprosencephaly.

Cyclopia--literature review and a case report.

Genetic approaches to understanding brain development: holoprosencephaly as a model.

Central diabetes insipidus in newborns: unique challenges in management.

The spectrum of orofacial clefting.

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.

Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature.

A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway.

Holoprosencephaly: clinical, anatomic, and molecular dimensions.

Results for
""Holoprosencephaly""[mesh_terms]