Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
about
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.Bone marrow failure may be caused by chromosome anomalies exerting effects on RUNX1T1 gene.Deletion of chromosome 8q22.1, a critical region for Nablus mask-like facial syndrome: four additional cases support a role of genetic modifiers in the manifestation of the phenotype.
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Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
description
im Juli 2012 veröffentlichter wissenschaftlicher Artikel
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scientific article published on 20 July 2012
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wetenschappelijk artikel
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наукова стаття, опублікована в липні 2012
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name
Nablus mask-like facial syndro ...... ficient to cause the phenotype
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Nablus mask-like facial syndro ...... ficient to cause the phenotype
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type
label
Nablus mask-like facial syndro ...... ficient to cause the phenotype
@en
Nablus mask-like facial syndro ...... ficient to cause the phenotype
@nl
prefLabel
Nablus mask-like facial syndro ...... ficient to cause the phenotype
@en
Nablus mask-like facial syndro ...... ficient to cause the phenotype
@nl
P2093
P2860
P50
P356
P1476
Nablus mask-like facial syndro ...... ficient to cause the phenotype
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P2093
Amanda Smith
Annick Raas-Rothschild
Beate Albrecht
Bertrand Isidor
Bregje van Bon
Cedric Le Caignec
Daniela Rogaia
Dennis Bulman
Emilia Bijlsma
Emilio Donti
P2860
P304
P356
10.1002/AJMG.A.35446
P407
P577
2012-07-20T00:00:00Z