X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.
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The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review.Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.Dental treatment of a patient with Opitz G/BBB syndrome.Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain.
P2860
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family.
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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 October 2006
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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
X-linked Opitz G/BBB syndrome: ...... diagnosis in a Korean family.
@en
X-linked Opitz G/BBB syndrome: ...... diagnosis in a Korean family.
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type
label
X-linked Opitz G/BBB syndrome: ...... diagnosis in a Korean family.
@en
X-linked Opitz G/BBB syndrome: ...... diagnosis in a Korean family.
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prefLabel
X-linked Opitz G/BBB syndrome: ...... diagnosis in a Korean family.
@en
X-linked Opitz G/BBB syndrome: ...... diagnosis in a Korean family.
@nl
P2093
P2860
P1476
X-linked Opitz G/BBB syndrome: ...... diagnosis in a Korean family.
@en
P2093
Chang-Seok Ki
Hee-Jin Kim
Hyun-Jung Cho
Jong-Won Kim
Kang-Mo Ahn
Mee-yong Shin
Sang Il Lee
P2860
P304
P356
10.3346/JKMS.2006.21.5.790
P577
2006-10-01T00:00:00Z