Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case.
Bawle
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Czarnecki
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D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005152:Facial Muscles / Q000473:pathology*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics / Q000473:pathology; D013577:Syndrome