De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. [electronic resource]
Producer: 20150818Description: 1744-9 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- diagnosis
- Bone Diseases, Developmental -- diagnosis
- Brain -- pathology
- Face -- abnormalities
- Facies
- Hematologic Diseases -- diagnosis
- Histone Demethylases -- genetics
- Humans
- Infant
- Intellectual Disability -- diagnosis
- Male
- Mutation
- Phenotype
- Repressor Proteins -- genetics
- Tooth Abnormalities -- diagnosis
- Vestibular Diseases -- diagnosis
No physical items for this record
Publication Type: Case Reports; Journal Article
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