A genetic study of pycnodysostosis
- PMID: 7163265
A genetic study of pycnodysostosis
Abstract
A study of seven cases of pycnodysostosis belonging to four different families confirmed the autosomal recessive transmission of the disease. In two sibships which included respectively four and six sibs, two sisters were affected. Furthermore, consanguinity of the parents was observed in three of the four families.
Similar articles
-
[A genetic study of pycnodysostosis].Ann Genet. 1972 Jun;15(2):99-101. Ann Genet. 1972. PMID: 4537729 French. No abstract available.
-
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping.Nat Genet. 1995 Jun;10(2):235-7. doi: 10.1038/ng0695-235. Nat Genet. 1995. PMID: 7663521
-
Autosomal recessive omodysplasia.Ann Genet. 1995;38(2):97-101. Ann Genet. 1995. PMID: 7486832 Review.
-
Pycnodysostosis. Clinical and genetic considerations.Am J Dis Child. 1968 Jul;116(1):70-7. doi: 10.1001/archpedi.1968.02100020072010. Am J Dis Child. 1968. PMID: 5657357 No abstract available.
-
[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].Pediatrie. 1987;42(2):121-8. Pediatrie. 1987. PMID: 3112731 Review. French.
Cited by
-
Pycnodysostosis. Case report.Int Orthop. 1988;12(3):261-3. doi: 10.1007/BF00547174. Int Orthop. 1988. PMID: 3182133
MeSH terms
LinkOut - more resources
Medical