Shwachman Diamond syndrome-phenotypes and genotypes: when clinical research informs biology.
Lipton
Jeffrey M
JM
The Feinstein Institute for Medical Research, Manhasset, New York, USA.
Ellis
Steven E
SE
Vlachos
Adrianna
A
D001855:Bone Marrow Diseases / Q000235:genetics* / Q000378:metabolism*; D005838:Genotype; D006801:Humans; D010641:Phenotype; D013577:Syndrome