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Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions.
- Source :
-
Journal of medical genetics [J Med Genet] 2003 Apr; Vol. 40 (4), pp. 285-9. - Publication Year :
- 2003
- Subjects :
- Abnormalities, Multiple pathology
Adolescent
Adult
Child
Child, Preschool
DNA chemistry
DNA genetics
DNA Mutational Analysis
Female
Gene Deletion
Histone Methyltransferases
Histone-Lysine N-Methyltransferase
Humans
Male
Mutation
Syndrome
Abnormalities, Multiple genetics
Carrier Proteins genetics
Growth Disorders pathology
Intellectual Disability pathology
Intracellular Signaling Peptides and Proteins
Nuclear Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 40
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Report
- Accession number :
- 12676901
- Full Text :
- https://doi.org/10.1136/jmg.40.4.285