Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).

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Article

Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).

American journal of human genetics - 1 Dec 1993

Brandi M L, Weber G, Svensson A, Falchetti A, Tonelli F, Castello R, Furlani L, Scappaticci S, Fraccaro M, Larsson C

Abstract excerpt

Families in which both parents are heterozygotes for the same autosomal dominant neoplasia syndrome are extremely unusual. Recently, we had the unique opportunity to evaluate three symptomatic siblings from the union between two unrelated individuals affected by multiple endocrine neoplasia type 1 (MEN1). When the three siblings and their parents and relatives were genotyped for 12 markers tightly linked to the...

Topics

Adrenal Cortex Neoplasms
Adult
Aged
Chromosomes, Human, Pair 11
Female
Genes, Dominant
Genetic Markers
Genotype
Haplotypes
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hypercalcemia

Hyperparathyroidism

Hyperplasia

Infertility

Karyotyping

Male

Middle Aged

Source

Open in PubMed Open full text

Identifiers

PMID: 7902670
PMCID: PMC1682503

Genes

MEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7902670-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).PMID 7902670Read ↗

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Constitutional mosaicism for a pathogenic variant in MEN1 associated with multiple endocrine neoplasia type I syndrome.Semantic proximity Read ↗

A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation.Semantic proximity Read ↗

Absence of Germ-Line Mutations of the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene in Familial Pituitary Adenoma in Contrast to MEN1 in Japanese1Semantic proximity Read ↗

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