Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.
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The C20orf133 gene is disrupted in a patient with Kabuki syndromeEpigenetic control of the immune system: a lesson from Kabuki syndrome.The C20orf133 gene is disrupted in a patient with Kabuki syndrome.Strabismus and poor stereoacuity associated with Kabuki syndrome.Kabuki Make-up Syndrome - A Case Report with Electromyographic study.Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome).Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome.Infrequent Manifestations of Kabuki Syndrome in a Patient with Novel MLL2 MutationCONGENITAL PSEUDARTHROSIS OF THE CLAVICLE.Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism DisordersCHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.Extraintestinal manifestations of celiac disease: 33-mer gliadin binding to glutamate receptor GRINA as a new explanation.Recurrent dislocation of the patella in kabuki make-up syndrome.Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples.Approach to hypoglycemia in infants and children.Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report.Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy.Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child.Dental findings in Kabuki make-up syndrome: a case report.KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.Hypoglycemia in Kabuki syndrome.
P2860
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P2860
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.
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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2004年学术文章
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2004年學術文章
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name
Atypical findings in Kabuki sy ...... and review of the literature.
@en
Atypical findings in Kabuki sy ...... and review of the literature.
@nl
type
label
Atypical findings in Kabuki sy ...... and review of the literature.
@en
Atypical findings in Kabuki sy ...... and review of the literature.
@nl
prefLabel
Atypical findings in Kabuki sy ...... and review of the literature.
@en
Atypical findings in Kabuki sy ...... and review of the literature.
@nl
P2093
P2860
P356
P1476
Atypical findings in Kabuki sy ...... and review of the literature.
@en
P2093
A Urtizberea
D Geneviève
D Sanlaville
M Le Merrer
V Cormier-Daire
P2860
P356
10.1002/AJMG.A.30144
P407
P577
2004-08-01T00:00:00Z