Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.
about
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumSmith-Magenis syndromeIdentification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndromeJoubert syndrome: more than lower cerebellar vermis hypoplasia, less than a complex brain malformation.Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.
P2860
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.
description
2000 nî lūn-bûn
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2000年の論文
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年学术文章
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2000年學術文章
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name
Patient with large 17p11.2 del ...... nd Joubert syndrome phenotype.
@en
Patient with large 17p11.2 del ...... nd Joubert syndrome phenotype.
@nl
type
label
Patient with large 17p11.2 del ...... nd Joubert syndrome phenotype.
@en
Patient with large 17p11.2 del ...... nd Joubert syndrome phenotype.
@nl
prefLabel
Patient with large 17p11.2 del ...... nd Joubert syndrome phenotype.
@en
Patient with large 17p11.2 del ...... nd Joubert syndrome phenotype.
@nl
P2093
P2860
P1476
Patient with large 17p11.2 del ...... and Joubert syndrome phenotype
@en
P2093
C Zuccarini
M Rossetti
P2860
P304
P356
10.1002/1096-8628(20001218)95:5<467::AID-AJMG11>3.0.CO;2-T
P577
2000-12-01T00:00:00Z