Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: A new patient presenting with normal growth
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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1. Case report: Paternal uniparental disomy on chromosome 7 and homozygous SUGCT mutation in a fetus with overweight after birth;Frontiers in Genetics;2023-10-17
2. Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review;Current Pediatric Reviews;2023-05
3. Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith–Wiedemann spectrum features;Molecular Case Studies;2021-10-06
4. Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis;Journal of Pediatric Genetics;2019-02-13
5. Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays;European Journal of Human Genetics;2019-02-08
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