Inv(4)(p16q21). A five-generation pedigree with 24 carriers and no recombin ants.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 97, doi. 10.1111/j.1399-0004.1987.tb02776.x
- By:
- Publication type:
- Article
Works matching IS 00099163 AND DT 1987 AND VI 31 AND IP 2
Results: 10
1
2
Congenital ichthyosis with alopecia, eclabion, ectropion and mental retardation - a new genetic syndrome.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 102, doi. 10.1111/j.1399-0004.1987.tb02777.x
- By:
- Publication type:
- Article
3
Osteopetrosis.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 86, doi. 10.1111/j.1399-0004.1987.tb02774.x
- By:
- Publication type:
- Article
4
Pseudodeficiency of arylsulfatase A: a counseling dilemma.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 70, doi. 10.1111/j.1399-0004.1987.tb02772.x
- By:
- Publication type:
- Article
5
A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of Charcot-Marie-Tooth disease.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 109, doi. 10.1111/j.1399-0004.1987.tb02778.x
- By:
- Publication type:
- Article
6
Genetic heterogeneity in X-linked agammaglobulinemia complicates carrier detection and prenatal diagnosis.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 91, doi. 10.1111/j.1399-0004.1987.tb02775.x
- By:
- Publication type:
- Article
7
Robinow syndrome: report of two patients and review of literature.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 77, doi. 10.1111/j.1399-0004.1987.tb02773.x
- By:
- Publication type:
- Article
8
A case report of a de novo tandem duplication (5p) (p14 → pter).
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 65, doi. 10.1111/j.1399-0004.1987.tb02771.x
- By:
- Publication type:
- Article
9
Mental retardation in a patient with Maroteaux-Lamy.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 114, doi. 10.1111/j.1399-0004.1987.tb02779.x
- By:
- Publication type:
- Article
10
European Society for Human Genetics Cardiff, Wales June 30-July 3, 1988.
- Published in:
- Clinical Genetics, 1987, v. 31, n. 2, p. 118, doi. 10.1111/j.1399-0004.1987.tb02780.x
- Publication type:
- Article