A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature
Keywords: تاخیر رشد; Duplication 1p34.1; Array CGH; Developmental delay; Microcephaly; Coloboma; Laryngomalacia; POMGNT1