相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene
Hailey R. Feldman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
Nicolas Lebrun et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
Paola F. Ajmone et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2018)
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases
S. Baer et al.
CLINICAL GENETICS (2018)
Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome
Yu Sun et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature
Anjali Aggarwal et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)
Pediatric Craniovertebral Junction Surgery
Nobuhito Morota
NEUROLOGIA MEDICO-CHIRURGICA (2017)
Congenital Immunodeficiency in an Individual with Wiedemann-Steiner Syndrome Due to a Novel Missense Mutation in KMT2A
Emilia Stellacci et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: The spectrum of brain MRI abnormalities
Jin Sook Lee et al.
BRAIN & DEVELOPMENT (2015)
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Samuel P. Strom et al.
BMC MEDICAL GENETICS (2014)
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Wendy D. Jones et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Embryology and bony malformations of the craniovertebral junction
Dachling Pang et al.
CHILDS NERVOUS SYSTEM (2011)
Physical association and coordinate function of the H3K4 methyltransferase MLL1 and the H4K16 acetyltransferase MOF
YL Dou et al.
CELL (2005)
Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome
T Yamamoto et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Symptomatic Chiari I malformation in Kabuki syndrome
KL Ciprero et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
MLL targets SET domain methyltransferase activity to Hox gene promoters
TA Milne et al.
MOLECULAR CELL (2002)
Congenital midline cleft of the posterior arch of atlas: a rare cause of symptomatic cervical canal stenosis
SEJ Connor et al.
EUROPEAN RADIOLOGY (2001)
Growth deficiency, mental retardation and unusual facies
CE Steiner et al.
CLINICAL DYSMORPHOLOGY (2000)