Brachydactyly type E in an Italian family with 6p25 trisomy
Author:
Funder
Wellcome Trust
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
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1. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature;Molecular Genetics & Genomic Medicine;2024-02
2. De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review;Diagnostics;2022-09-24
3. Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes;Frontiers in Medicine;2022-07-14
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