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Additional findings_Paediatric v0.2 | RECQL4 | Zornitza Stark Added phenotypes Rothmund-Thomson syndrome for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.2 | RECQL4 | Zornitza Stark Added phenotypes Rapadilino syndrome for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Additional findings_Paediatric v0.2 | RECQL4 |
Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome |