8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism. [electronic resource]
Producer: 20120306Description: 353-63 p. digitalISSN:- 1015-8146
- Abnormalities, Multiple -- diagnosis
- Adolescent
- Alleles
- Bone Morphogenetic Protein 3 -- genetics
- Chromosome Deletion
- Chromosomes, Human, Pair 4 -- genetics
- Cleft Lip -- diagnosis
- Cleft Palate -- diagnosis
- Cyclic GMP-Dependent Protein Kinase Type II
- Cyclic GMP-Dependent Protein Kinases -- genetics
- DNA Copy Number Variations
- Growth Disorders -- diagnosis
- Hearing Loss, Sensorineural -- diagnosis
- Humans
- Intellectual Disability -- diagnosis
- Male
- Oligonucleotide Array Sequence Analysis
- Phenotype
- Real-Time Polymerase Chain Reaction
- ras Guanine Nucleotide Exchange Factors -- genetics
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Publication Type: Case Reports; Journal Article; Review
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