Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Item
http://www.wikidata.org/entity/Q51939769
Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q.Thoracolumbar scoliosis posterior approachAssociations of anorectal malformations and related syndromes.Phenotype analysis impacts testing strategy in patients with Currarino syndrome.Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH geneCurrarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.Currarino syndrome: report of five consecutive patients.Holoprosencephaly: report of four cases and genotype-phenotype correlations.Currarino's triad diagnosed in an adult woman.Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome.Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion.Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations.Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report.Cryptic 7q36.2q36.3 deletion causes multiple congenital eye anomalies and craniofacial dysmorphism
P2860

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Item
http://www.wikidata.org/entity/Q51939769
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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name
Minimal clinical expression of ...... and the HLXB9 gene at 7q36.3.
@en
Minimal clinical expression of ...... and the HLXB9 gene at 7q36.3.
@nl
type
label
Minimal clinical expression of ...... and the HLXB9 gene at 7q36.3.
@en
Minimal clinical expression of ...... and the HLXB9 gene at 7q36.3.
@nl
prefLabel
Minimal clinical expression of ...... and the HLXB9 gene at 7q36.3.
@en
Minimal clinical expression of ...... and the HLXB9 gene at 7q36.3.
@nl
P1433
P1476
P2093
P2860
P304
P31
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P407
P433
P478
P577
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Minimal clinical expression of ...... and the HLXB9 gene at 7q36.3.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921