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| Fetal hydrops v1.64 | PTH1R | Irina Adamena reviewed gene: PTH1R: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33082562; Phenotypes: Nonimmune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal hydrops v1.16 | PTH1R |
Zornitza Stark gene: PTH1R was added gene: PTH1R was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTH1R were set to 3975110; 9268097; 8723092 Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD Review for gene: PTH1R was set to GREEN gene: PTH1R was marked as current diagnostic Added comment: PMID 3975110 Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet" PMID 9268097 Sibling fetuses were both hydropic at 26 and 33 weeks' gestation. PMID 8723092: Both fetuses hydropic, one grossly so. Sources: Expert list |
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