The tale of two genes: from next-generation sequencing to phenotype. [electronic resource]
Producer: 20210527ISSN:- 2373-2873
- Adolescent
- Alleles
- Craniosynostoses -- diagnosis
- Developmental Disabilities -- diagnosis
- Facies
- Genetic Association Studies
- Genotype
- Growth Charts
- Humans
- Intellectual Disability -- diagnosis
- Male
- Medical History Taking
- Mutation
- Obesity, Morbid -- diagnosis
- Pedigree
- Phenotype
- Receptor, Melanocortin, Type 4 -- genetics
- Repressor Proteins -- genetics
- Exome Sequencing
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Publication Type: Case Reports; Journal Article
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