Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome. [electronic resource]
Producer: 19940224Description: 1166-70 p. digitalISSN:- 0148-7299
- Abnormalities, Multiple -- diagnosis
- Diagnosis, Differential
- Female
- Genes, Recessive
- Genitalia, Female -- abnormalities
- Heart Defects, Congenital -- genetics
- Hernia, Umbilical -- genetics
- Humans
- Karyotyping
- Lung -- abnormalities
- Phenotype
- Pulmonary Artery -- abnormalities
- Syndrome
- X Chromosome
- Y Chromosome
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Publication Type: Case Reports; Journal Article
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