| Literature DB >> 8169270 |
P M Steijlen1, H A Neumann, D J der Kinderen, D F Smeets, P C van der Kerkhof, R Happle.
Abstract
A syndrome of congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth was observed in four siblings (three women and one man). The pedigree is suggestive of either an autosomal recessive mode of inheritance or the inheritance of a (small) chromosomal translocation. This combination of findings has not been previously reported and is therefore considered to be a new genetic entity.Entities:
Mesh:
Year: 1994 PMID: 8169270 DOI: 10.1016/s0190-9622(94)70108-3
Source DB: PubMed Journal: J Am Acad Dermatol ISSN: 0190-9622 Impact factor: 11.527