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

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

European journal of medical genetics - 1 Jan 2000

Weichert Jan, Schröer Andreas, Amari Feriel, Siebert Reiner, Caliebe Almuth, Nagel Inga, Gillessen-Kaesbach Gabriele, Mohrmann Inga, Hellenbroich Yorck

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive disorder encompassing pre- and postnatal overgrowth and a variety of additional anomalies including craniofacial dysmorphism, macrocephaly, congenital heart defects and genitourinary anomalies. There is little published information regarding the prenatal presentation of SGBS in pregnancy. In the present report we describe the antenatal features of...

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmias, Cardiac
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fetal Diseases

Share to Genetic Diseases, X-Linked

Share to Gigantism

Share to Glypicans

Share to Heart Defects, Congenital

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 21362501
DOI: 10.1016/j.ejmg.2011.02.009

Genes

GPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.PMID 21362501Read ↗

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Early Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome (SGBS): Ultrasound Indicators of Suspicion and Molecular Assessment. A Case ReportSemantic proximity Read ↗

Phenotypic spectrum of Simpson-Golabi-Behmel syndrome in a series of 42 cases with a mutation in GPC3 and review of the literature.Semantic proximity Read ↗

Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Whole exome sequencing and array‐based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson–Golabi–Behmel syndromeSemantic proximity Read ↗

Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Simpson-Golabi-Behmel syndrome in a female: A case report and an unsolved issue.Semantic proximity Read ↗

Phenotypic spectrum and tumor risk in Simpson-Golabi-Behmel syndrome: Case series and comprehensive literature review.Semantic proximity Read ↗

Simpson-Golabi-Behmel syndrome: One family, same mutation, different outcome.Semantic proximity Read ↗

The Simpson-Golabi-Behmel syndrome: A clinical case and a detective story.Semantic proximity Read ↗

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

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