Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome-Reference-Cited by-同舟云学术

Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome

Published:2013-09 Issue:3 Volume:163 Page:742-746
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Courcet Jean-Benoît,Faivre Laurence,Michot Caroline,Burguet Antoine,Perez-Martin Stéphanie,Alix Eudeline,Amiel Jeanne,Baumann Clarisse,Cordier Marie-Pierre,Cormier-Daire Valérie,Delrue Marie Ange,Gilbert-Dussardier Brigitte,Goldenberg Alice,Jacquemont Marie-Line,Jaquette Aurélia,Kayirangwa Honorine,Lacombe Didier,Le Merrer Martine,Toutain Annick,Odent Sylvie,Moncla Anne,Pelet Anna,Philip Nicole,Pinson Lucille,Poisson Sylvain,Kim-Han Le Quan Sang,Roume Joelle,Sanchez Elodie,Willems Marjolaine,Till Marianne,Vincent-Delorme Catherine,Mousson Christiane,Vinault Sandrine,Binquet Christine,Huet Frédéric,Sarda Pierre,Salomon Rémi,Lyonnet Stanislas,Sanlaville Damien,Geneviève David

Funder

Ministère des Affaires Sociales et de la Santé

Conseil régional de Bourgogne-Franche-Comté

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference26 articles.

1. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency;Niikawa;J Pediatr,1981

2. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation;Kuroki;J Pediatr,1981

3. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients;Niikawa;Am J Med Genet,1988

4. Kabuki make-up syndrome: a review;Matsumoto;Am J Med Genet C Semin Med Genet,2003

5. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases;Philip;Clin Dysmorphol,1992

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1. Case Report: Pre- and post-natal evolution of Kabuki Syndrome due to a novel genetic mutation;F1000Research;2024-04-26

2. Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome;Scientific Reports;2024-01-28

3. Prenatal diagnosis and outcomes in fetuses with duplex kidney;International Journal of Gynecology & Obstetrics;2024-01-08

4. Phenotypic anomalies in Kabuki syndrome and their implications – an analysis of two cases in the light of scientific literature;Pediatria i Medycyna Rodzinna;2023-12-05

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