Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

doi:10.1016/j.ajhg.2019.12.004

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

American journal of human genetics - 2 Jan 2020

Hughes Joel J, Alkhunaizi Ebba, Kruszka Paul, Pyle Louise C, Grange Dorothy K, Berger Seth I, Payne Katelyn K, Masser-Frye Diane, Hu Tommy, Christie Michelle R, Clegg Nancy J, Everson Joshua L, Martinez Ariel F, Walsh Laurence E, Bedoukian Emma, Jones Marilyn C, Harris Catharine Jean, Riedhammer Korbinian M, Choukair Daniela, Fechner Patricia Y, Rutter Meilan M, Hufnagel Sophia B, Roifman Maian, Kletter Gad B, Delot Emmanuele, Vilain Eric, Lipinski Robert J, Vezina Chad M, Muenke Maximilian, Chitayat David

Abstract excerpt

In two independent ongoing next-generation sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex development, and through international research collaboration, we identified twelve individuals with de novo loss-of-function (LoF) variants in protein phosphatase 1, regulatory subunit 12a (PPP1R12A), an important developmental gene involved in cell migration, adhesion, and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Child, Preschool

Share to Disorders of Sex Development

Share to Gestational Age

Share to Holoprosencephaly

Share to Pregnancy

Share to Urogenital Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 31883643
DOI: 10.1016/j.ajhg.2019.12.004
PMCID: PMC7042489

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.PMID 31883643Read ↗

Loss-of-Function Variant in PPP1R12A -Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.Semantic proximity Read ↗

PPP1R12A Pathogenic Variants Associated with Human Congenital Malformations Syndrome.Semantic proximity Read ↗

Clinical report and genetic analysis of a neonate with genitourinary and/or brain malformation syndrome caused by a non‐coding sequence variant of PPP1R12ASemantic proximity Read ↗

Intestinal Atresia in PPP1R12A -Related Urogenital and Brain Malformation Syndrome.Semantic proximity Read ↗

Holoprosencephaly in the genomics era.Semantic proximity Read ↗

Holoprosencephaly: recommendations for diagnosis and management.Semantic proximity Read ↗

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.Semantic proximity Read ↗

Potter Deformation Sequence Caused by 17q12 Deletion: A Lethal Constellation.Semantic proximity Read ↗

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.Semantic proximity Read ↗

Holoprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and ManagementSemantic proximity Read ↗

Genetics of human congenital urinary bladder disease.Semantic proximity Read ↗

Rare copy number variants identified in prune belly syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.