Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report. [electronic resource]
Producer: 20180326Description: 201-207 p. digitalISSN:- 1791-3004
- Biomarkers
- Chromosome Aberrations
- Chromosomes, Human, X
- Chromosomes, Human, Y
- Comparative Genomic Hybridization
- Genetic Association Studies
- Haploinsufficiency
- Humans
- Hypospadias -- diagnosis
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Karyotyping
- Male
- Mosaicism
- Phenotype
- Polymorphism, Single Nucleotide
- Short Stature Homeobox Protein -- genetics
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Publication Type: Case Reports; Journal Article
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