Title : Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype - Scalais_2016_Am.J.Med.Genet.A_170_1799 |
Author(s) :
Scalais E , Connerotte AC , Despontin K , Biver A , Ceuterick-de Groote C , Alders M , Kolivras A , Hachem JP , de Meirleir L |
Ref :
American Journal of Medicine Genet A , 170 :1799 , 2016 |
Abstract : Scalais_2016_Am.J.Med.Genet.A_170_1799 |
ESTHER : Scalais_2016_Am.J.Med.Genet.A_170_1799 |
PubMedSearch : Scalais_2016_Am.J.Med.Genet.A_170_1799 |
PubMedID: 27127007 |