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SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.

Hormone research in paediatrics - 1 Jan 2024

Kodytková Aneta, Amaratunga Shenali Anne, Zemková Daniela, Maratová Klára, Dušátková Petra, Plachý Lukáš, Průhová Štěpánka, Koloušková Stanislava, Lebl Jan

Abstract excerpt

INTRODUCTION: The SALL4 gene encodes a transcription factor that is essential for early embryonic cellular differentiation of the epiblast and primitive endoderm. It is required for the development of neural tissue, kidney, heart, and limbs. Pathogenic SALL4 variants cause Duane-radial ray syndrome (Okihiro syndrome), acro-renal-ocular syndrome, and Holt-Oram syndrome. We report a family with vertical...

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PMID: 37611564
DOI: 10.1159/000531996

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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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SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.PMID 37611564Read ↗

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