Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
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Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual featuresDistal trisomy of 10q with distal monosomy of 15q due to a paternal translocation.Inverted Duplication and Deletion of 10q25q26 in a Patient without Any Obvious Skeletal Anomalies.Features of KAT6B-related disorders in a patient with 10q22.1q22.3 deletion.Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings
P2860
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 04 January 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Blepharophimosis and mental re ...... and review of the literature.
@en
Blepharophimosis and mental retardation
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type
label
Blepharophimosis and mental re ...... and review of the literature.
@en
Blepharophimosis and mental retardation
@nl
prefLabel
Blepharophimosis and mental re ...... and review of the literature.
@en
Blepharophimosis and mental retardation
@nl
P2093
P1476
Blepharophimosis and mental re ...... and review of the literature.
@en
P2093
Albert Schinzel
Bernhard Steiner
Deborah Bartholdi
Mariluce Riegel
Sandra P Toelle
P304
P356
10.1016/J.EJMG.2007.12.005
P577
2008-01-04T00:00:00Z