A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference5 articles.
1. Pathogenesis of split-hand/split-foot malformation
2. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).
3. Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation:
4. New syndrome? Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery
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1. RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis;EMBO Molecular Medicine;2023-04-17
2. Confirmation of 6q21-6q22.1 deletion in Acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome;American Journal of Medical Genetics Part A;2014-04-08
3. Acro-cardio-facial syndrome: A microdeletion syndrome?;American Journal of Medical Genetics Part A;2012-06-27
4. Acro-cardio-facial syndrome;Orphanet Journal of Rare Diseases;2010-09-29
5. Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion ofP63mutation;American Journal of Medical Genetics Part A;2009-07-15
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