Acrofrontofacionasal dysostosis: Report of the third Brazilian family
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference2 articles.
1. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: Acro-fronto-facio-nasal dysostosis syndrome
2. Acro-fronto-facio-nasal dysostosis: Report of a new brazilian family
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1. Cleft 0/14;Facial Reconstruction of Unusual Facial Clefts;2023
2. Cleft 30;Facial Reconstruction of Unusual Facial Clefts;2023
3. A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects;Bone;2021-12
4. Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1;Bone;2018-09
5. Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome;American Journal of Medical Genetics Part A;2017-10-08
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