Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
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The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings.Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
P2860
Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.
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Additional data on the clinica ...... ncating mutation in ADNP gene.
@en
Additional data on the clinica ...... ncating mutation in ADNP gene.
@nl
type
label
Additional data on the clinica ...... ncating mutation in ADNP gene.
@en
Additional data on the clinica ...... ncating mutation in ADNP gene.
@nl
prefLabel
Additional data on the clinica ...... ncating mutation in ADNP gene.
@en
Additional data on the clinica ...... ncating mutation in ADNP gene.
@nl
P2860
P50
P356
P1476
Additional data on the clinica ...... uncating mutation in ADNP gene
@en
P2093
Aleksandra Jezela-Stanek
P2860
P304
P356
10.1002/AJMG.A.37641
P407
P50
P577
2016-03-31T00:00:00Z