TY  - GEN
AU  - Gueneau,Lucie
AU  - Duplomb,Laurence
AU  - Sarda,Pierre
AU  - Hamel,Christian
AU  - Aral,Bernard
AU  - Chehadeh,Salima El
AU  - Gigot,Nadège
AU  - St-Onge,Judith
AU  - Callier,Patrick
AU  - Thevenon,Julien
AU  - Huet,Frédéric
AU  - Carmignac,Virginie
AU  - Droin,Nathalie
AU  - Faivre,Laurence
AU  - Thauvin-Robinet,Christel
TI  - Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations
SN  - 1552-4833
PY  - 2014///0911
KW  - Adult
KW  - Congenital Bone Marrow Failure Syndromes
KW  - DNA Mutational Analysis
KW  - Facies
KW  - Female
KW  - Gene Order
KW  - Humans
KW  - Intellectual Disability
KW  - diagnosis
KW  - Mutation
KW  - Neutropenia
KW  - congenital
KW  - Obesity
KW  - Pedigree
KW  - Phenotype
KW  - Retinal Diseases
KW  - Syndrome
KW  - Vesicular Transport Proteins
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.36300
ER  -