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Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.

We report a mother and daughter with features of the velocardiofacial (VCF) syndrome and monosomy for 22q11 identified using molecular techniques. The mother had surgery as a child for a cleft palate and a congenital heart defect, and her facial features were consistent with the diagnosis. The daugh...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Holder, S E, Winter, R M, Kamath, S, Scambler, P J
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: 1993
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016563/
https://ncbi.nlm.nih.gov/pubmed/8230158
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