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Article

Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect.

American journal of medical genetics - 13 Feb 1995

Sorge G, Ardito S, Genuardi M, Pavone V, Rizzo R, Conti G, Neri G, Katz B E, Opitz J M

Abstract excerpt

Proximal femoral focal deficiency (PFFD) and fibular a/hypoplasia (FAH) are distinct malformations of the lower limbs. Both can occur as isolated defects or in association with other limb malformations. In fact, fibular defects frequently are present in PFFD, and, conversely, femoral abnormalities can be found in the presence of a typical FAH picture. We report on 5 patients with a variable combination of femoral...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 7762582
DOI: 10.1002/ajmg.1320550409

Genes

FAH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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