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Article

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Journal of human genetics - 1 Aug 2016

Sano Shinichiro, Matsubara Keiko, Nagasaki Keisuke, Kikuchi Toru, Nakabayashi Kazuhiko, Hata Kenichiro, Fukami Maki, Kagami Masayo, Ogata Tsutomu

Abstract excerpt

Although recent studies have often revealed the presence of multilocus imprinting disturbance (MLID) at differentially methylated regions (DMRs) in patients with imprinting disorders (IDs), most patients exhibit clinical features of the original ID only. Here we report a Japanese female patient with Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib. Molecular studies revealed marked methylation...

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Source

Identifiers

PMID: 27121328
DOI: 10.1038/jhg.2016.45

Genes

DNMT1
GNAS
NLRP2
NLRP5
NLRP7
ZFP57

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.

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Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?PMID 27121328Read ↗

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Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseasesSemantic proximity Read ↗

Investigation of Multilocus Imprinting Disturbance (MLID) in 101 Beckwith-Wiedemann Spectrum patientsSemantic proximity Read ↗

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