Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
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Severe congenital neutropenia ...... enotype-phenotype correlation.
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Severe congenital neutropenia ...... enotype-phenotype correlation.
@nl
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label
Severe congenital neutropenia ...... enotype-phenotype correlation.
@en
Severe congenital neutropenia ...... enotype-phenotype correlation.
@nl
prefLabel
Severe congenital neutropenia ...... enotype-phenotype correlation.
@en
Severe congenital neutropenia ...... enotype-phenotype correlation.
@nl
P2093
P2860
P50
P356
P1476
Severe congenital neutropenia ...... enotype-phenotype correlation.
@en
P2093
Amos Simon
Arnaud V Vanlander
Catharina Dhooge
Christoph Klein
Patricia Delbeke
Raz Somech
P2860
P304
P356
10.1002/AJMG.A.37367
P407
P577
2015-09-11T00:00:00Z