Article

SPLIT HAND/FOOT VARIANTS FAIL TO RESCUE PRDM1A MUTANT CRANIOFACIAL DEFECTS

2023-05-22

Abstract excerpt

<h4>Background</h4> Split Hand/Foot Malformation (SHFM) is a congenital limb disorder presenting with limb anomalies, such as missing, hypoplastic, or fused digits, and often craniofacial defects, including a cleft lip/palate, microdontia, micrognathia, or maxillary hypoplasia. We previously identified three novel variants in the transcription factor, PRDM1 , that are associated with SHFM phenotypes. One individ...

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Literature Corpus work: 839c2233-98f6-570f-8e28-e98826bec069
DOI: 10.1101/2023.05.19.541469

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