Baer, S

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. [electronic resource] - Clinical genetics 07 2018 - 141-152 p. digital

Publication Type: Case Reports; Journal Article; Review

1399-0004

10.1111/cge.13254 doi


Adolescent
Amino Acid Substitution
Child
Child, Preschool
Disease Susceptibility
Female
France
High-Throughput Nucleotide Sequencing
Histone-Lysine N-Methyltransferase--genetics
Humans
Intellectual Disability--diagnosis
Magnetic Resonance Imaging
Male
Mutation
Myeloid-Lymphoid Leukemia Protein--genetics
Phenotype
Syndrome
Tomography, X-Ray Computed