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Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant
Author(s) -
Salvatore D.,
Dell'Edera D.,
Colangelo C.,
Smaldore G.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12733
Subject(s) - cystic fibrosis , toddler , presentation (obstetrics) , medicine , pediatrics , endocrinology , psychology , surgery , developmental psychology