Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome. [electronic resource]
Producer: 20030417Description: e50 p. digitalISSN:- 1468-6244
- Abnormalities, Multiple -- genetics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, X -- genetics
- DNA -- chemistry
- DNA Mutational Analysis
- Ear -- abnormalities
- Family Health
- Female
- Genetic Linkage
- Genetic Predisposition to Disease -- genetics
- Gynecomastia -- pathology
- Humans
- Hypogonadism -- pathology
- Intellectual Disability -- genetics
- Male
- Molecular Sequence Data
- Obesity -- pathology
- Pedigree
- Seizures -- pathology
- Sequence Deletion
- Sequence Homology, Amino Acid
- Syndrome
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Publication Type: Journal Article
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