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Article

Co-segregation of Freiberg's infraction with a familial translocation t(5;7)(p13.3;p22.2) ascertained by a child with cri du chat syndrome and brachydactyly type A1B.

American journal of medical genetics. Part A - 1 Feb 2015

Myśliwiec Marta, Panasiuk Barbara, Dębiec-Rychter Maria, Iwanowski Piotr Sebastian, Łebkowska Urszula, Nowakowska Beata, Marcinkowska Anna, Stankiewicz Pawel, Midro Alina T

Abstract excerpt

The identification of chromosomal breakpoints in association with human abnormal phenotypes can enable elucidation of gene function. We report on epiphyseal aseptic necrosis of the lesser head of the second metatarsal bone, known as Freiberg's infraction (FI), in two female carriers of the appare...

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Source

Identifiers

PMID: 25756154
DOI: 10.1002/ajmg.a.36874

Genes

ADAMTS12
SDK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25756154-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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