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A complex pheotype in a girl with a novel heterozygous miss..:
Cavarzere Paolo
;
Gastaldi Andrea
;
Francesca Marta Elli
...
https://doi.org/10.1186/s13023-022-02252-6. , 2022
Link:
https://doi.org/10.1186/s13023-022-02252-6
RT Journal T1
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:a95747950f024141a285905c723866ff&Exemplar=1&LAN=DE A1 Cavarzere Paolo A1 Gastaldi Andrea A1 Francesca Marta Elli A1 Gaudino Rossella A1 Peverelli Erika A1 Brugnara Milena A1 Susanne Thiele A1 Granata Francesca A1 Mantovani Giovanna A1 Antoniazzi Franco PB BMC YR 2022 K1 GNAS gene K1 Hyponatremia K1 Subclinical hyperthyroidism K1 Precocious thelarche K1 Congenital bone abnormalities K1 Medicine K1 R JF https://doi.org/10.1186/s13023-022-02252-6 LK http://dx.doi.org/https://doi.org/10.1186/s13023-022-02252-6 DO https://doi.org/10.1186/s13023-022-02252-6 SF ELIB - SuUB Bremen
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