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Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibilityOvergrowth Syndromes.Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.Commonest overgrowth syndromes.Approach to the Diagnosis of Overgrowth Syndromes.Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2.Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation.Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.Refractory arterial hypertension and renal failure combined with cerebral seizures and pancytopenia in a 5-year-old girl with bilateral nephromegaly: Answers.Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome?
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Perlman syndrome: report, prenatal findings and review.
@en
Perlman syndrome: report, prenatal findings and review.
@nl
type
label
Perlman syndrome: report, prenatal findings and review.
@en
Perlman syndrome: report, prenatal findings and review.
@nl
prefLabel
Perlman syndrome: report, prenatal findings and review.
@en
Perlman syndrome: report, prenatal findings and review.
@nl
P2093
P356
P1476
Perlman syndrome: report, prenatal findings and review.
@en
P2093
Duksha Ramful
Fabrice Cuillier
Jean-Luc Alessandri
Jean-Pierre Rivière
Sandrine Ernould
Stefan de Napoli-Cocci
Stéphanie Robin
Sylvie Rossignol
P304
P356
10.1002/AJMG.A.32391
P407
P577
2008-10-01T00:00:00Z