A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
about
Six3 regulates optic nerve development via multiple mechanisms.Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkGli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model.Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism.In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.Holoprosencephaly: report of four cases and genotype-phenotype correlations.Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism
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A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-cn
2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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2011年學術文章
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name
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
@en
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
@nl
type
label
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
@en
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
@nl
prefLabel
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
@en
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
@nl
P2093
P2860
P356
P1476
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
@en
P2093
Benjamin D Solomon
Brian P Brooks
Casey K Hadsall
Daniel E Pineda-Alvarez
Donald W Hadley
Erich Roessler
Joan Z Balog
Maximilian Muenke
Wadih M Zein
P2860
P304
P356
10.1002/AJMG.A.34261
P407
P577
2011-10-04T00:00:00Z