Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. [electronic resource]
Producer: 20070220Description: 2598-602 p. digitalISSN:- 1552-4825
- Abnormalities, Multiple -- genetics
- Adult
- Chromosome Deletion
- Chromosomes, Human, Pair 18
- Holoprosencephaly -- diagnosis
- Homeodomain Proteins -- genetics
- Humans
- Hypotrichosis -- diagnosis
- Intellectual Disability -- genetics
- Karyotyping
- Male
- Microcephaly -- genetics
- Phenotype
- Repressor Proteins -- genetics
- Syndrome
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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