Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.
Gueneau, Lucie
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. [electronic resource] - American journal of medical genetics. Part A Feb 2014 - 522-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.36300 doi
Adult
Congenital Bone Marrow Failure Syndromes
DNA Mutational Analysis
Facies
Female
Gene Order
Humans
Intellectual Disability--diagnosis
Mutation
Neutropenia--congenital
Obesity--diagnosis
Pedigree
Phenotype
Retinal Diseases--diagnosis
Syndrome
Vesicular Transport Proteins--genetics
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations. [electronic resource] - American journal of medical genetics. Part A Feb 2014 - 522-7 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1552-4833
10.1002/ajmg.a.36300 doi
Adult
Congenital Bone Marrow Failure Syndromes
DNA Mutational Analysis
Facies
Female
Gene Order
Humans
Intellectual Disability--diagnosis
Mutation
Neutropenia--congenital
Obesity--diagnosis
Pedigree
Phenotype
Retinal Diseases--diagnosis
Syndrome
Vesicular Transport Proteins--genetics