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A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia.
Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.
Dental findings in 14q terminal deletion syndrome.
Case report: Y;6 translocation with deletion of 6p.