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Paper Details

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.
Orphanet J Rare Dis
1
2023
6p25 region, Chromosome 6, FOXC1, HI, HI gene, RREB1, TUBB2A, TUBB2B, Terminal 6p deletions, balance problems, brain malformations, cardiac, children, chromosome 6, complex heart defects, congenital defects of the cardiac septa and valves, corpus callosum abnormalities, developmental delay, dysmorphic features, eye movement abnormalities, gastrointestinal problems, haploinsufficiency of FOXC1, hearing impairment, hypotonia, kidney abnormalities, neurological abnormalities, ocular anterior segment dysgenesis, orofacial clefting, patients, terminal 6p region, terminal and subterminal 6p deletions, terminal deletions, vision problems
Author NameAffiliation
Morris A SwertzUniversity of Groningen, University Medical Centre Groningen
Morris A SwertzUniversity of Groningen, University Medical Centre Groningen
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