All individuals with variants in gene FEN1

1 entry on 1 page. Showing entry 1.
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00207812 29122926-Fam PubMed: Ben-Salem 2018 4-generation family, 2 affected cousins, unaffected heterozygous carrier parents M yes United Arab Emirates - - 0 - - ? postnatal growth deficiency, profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving spine, pelvis and metaphyses, corneal clouding and intellectual disability 1 2 Johan den Dunnen
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