Discover Community Create You

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

Article

Clinical and genetic analysis of two Chinese infants with Mabry syndrome.

Brain & development - 1 Oct 2016

Xue Jiao, Li Hui, Zhang Yuehua, Yang Zhixian

Abstract excerpt

OBJECTIVE: Hyperphosphatasia mental retardation syndrome (Mabry syndrome) is an autosomal recessive disorder. We aim to analyze two Chinese patients diagnosed as Mabry syndrome. METHODS: The clinical manifestations, diagnosis and treatment were observed in two patients. Genetic analysis including PIGV and PIGO was examined. RESULTS: Two patients were diagnosed as Mabry syndrome clinically and genetically....

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Brain
Share to Cadherins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Intellectual Disability

Share to Mannosyltransferases

Share to Membrane Proteins

Share to Protocadherins

Source

Identifiers

PMID: 27177984
DOI: 10.1016/j.braindev.2016.04.008

Genes

PIGV
PIGO
PCDH19

Variants

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic analysis of two Chinese infants with Mabry syndrome.PMID 27177984Read ↗

Hirschsprung's disease and a rare mutation of the PIGO gene: Mabry syndrome.Semantic proximity Read ↗

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.Semantic proximity Read ↗

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome.Semantic proximity Read ↗

Turkish cases of Mabry Syndrome with a novel homozygous mutation in PGAP2 geneSemantic proximity Read ↗

Mutations in PIGL in a patient with Mabry syndromeSemantic proximity Read ↗

A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi familySemantic proximity Read ↗

Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.Semantic proximity Read ↗

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).Semantic proximity Read ↗

PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.Semantic proximity Read ↗

Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Mabry Syndrome with novel PIGO gene variants associated with hyperphosphatasia, intractable epilepsy, and complex gastrointestinal and urogenital malformations.Semantic proximity Read ↗

A Case Report of Phelan-McDermid Syndrome: Successful Treatment with Growth Hormone TherapySemantic proximity Read ↗

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