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

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

Journal of medical genetics - 1 Apr 2017

Andreoletti Gaia, Seaby Eleanor G, Dewing Jennifer M, O'Kelly Ita, Lachlan Katherine, Gilbert Rodney D, Ennis Sarah

Abstract excerpt

BACKGROUND: Deletions in the Xq22.3-Xq23 region, inclusive of COL4A5, have been associated with a contiguous gene deletion syndrome characterised by Alport syndrome with intellectual disability (Mental retardation), Midface hypoplasia and Elliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. We sought to discover a...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Developmental Disabilities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Elliptocytosis, Hereditary

Share to Nephritis, Hereditary

Share to Pedigree

Share to Point Mutation

Share to Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 27811305
DOI: 10.1136/jmedgenet-2016-104100
PMCID: PMC5502304

Genes

AMMECR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.PMID 27811305Read ↗

Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the PhenotypeSemantic proximity Read ↗

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?Semantic proximity Read ↗

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1Semantic proximity Read ↗

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.Semantic proximity Read ↗

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.Semantic proximity Read ↗

Exome sequencing provides additional evidence for the involvement of ARHGAP29 in Mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate.Semantic proximity Read ↗

Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay.Semantic proximity Read ↗

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Semantic proximity Read ↗

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.Semantic proximity Read ↗

Identification and Characterization of a Highly Conserved Protein Absent in the Alport Syndrome (A), Mental Retardation (M), Midface Hypoplasia (M), and Elliptocytosis (E) Contiguous Gene Deletion Syndrome (AMME)Semantic proximity Read ↗

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.Semantic proximity Read ↗

A novel ARX loss of function variant in female monozygotic twins is associated with chorea.Semantic proximity Read ↗

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