Molecular characterization of a Portuguese patient with Shwachman-Diamond syndrome.
Serviço de Pediatria, Hospital Central Especializado de Crianças Maria Pia, Porto, Portugal.
Rosa M
RM
Lima
Elísio
E
Costa
Cristina
C
Rocha
Emília
E
Vieira
Rosário
R
dos Santos
José
J
Barbot
Herculano
H
Rocha
D001848:Bone Diseases, Developmental / Q000235:genetics; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005091:Exons; D005183:Failure to Thrive / Q000209:etiology; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011174:Portugal; D013577:Syndrome