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

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.

Clinical genetics - 1 Dec 2004

Shrimpton A E, Braddock B R, Thomson L L, Stein C K, Hoo J J

Abstract excerpt

A minority of the reported cases of terminal 2q37 deletion clinically resemble Albright hereditary osteodystrophy (AHO)/pseudopseudohypoparathyroidism and have only mild-to-moderate mental retardation. Our molecular and cytogenetic fluorescence in situ hybridization (FISH) findings on an additional three patients further reduce the size of the minimal critical region deleted in this syndrome to about 3 Mb. This...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrous Dysplasia, Polyostotic

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

Share to Receptor Protein-Tyrosine Kinases

Share to Receptors, G-Protein-Coupled

Source

Identifiers

PMID: 15521982
DOI: 10.1111/j.1399-0004.2004.00363.x

Genes

GPR35
GPC1
STK25

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

Molecular delineation of deletions on 2q37.3 in three cases with an Albright hereditary osteodystrophy-like phenotype.PMID 15521982Read ↗

2q37.3 Deletion Syndrome: Two Cases with Highly Distinctive Facial Phenotype, Discordant Association with Schizophrenic Psychosis, and Shared Deletion Breakpoint Region on 2q37.3.Semantic proximity Read ↗

Chromosome 2q37 deletion: clinical and molecular aspects.Semantic proximity Read ↗

Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype.Semantic proximity Read ↗

Familial cryptic translocation between chromosomes 2qter and 8qter: further delineation of the Albright hereditary osteodystrophy-like phenotype.Semantic proximity Read ↗

Different AHO phenotype in a Chinese family with a novel GNAS missense mutation: a case reportSemantic proximity Read ↗

No evidence for GNAS copy number variants in patients with features of Albright's hereditary osteodystrophy and abnormal platelet Gs activity.Semantic proximity Read ↗

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.Semantic proximity Read ↗

A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype.Semantic proximity Read ↗

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.Semantic proximity Read ↗

A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.Semantic proximity Read ↗

[Clinical manifestation of chromosome 2 long arm terminal deletion--presentation of four cases].Semantic proximity Read ↗

Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation.Semantic proximity Read ↗

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