Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.

Author:

Meindl A,Hosenfeld D,Bruckl W,Schuffenhauer S,Jenderny J,Bacskulin A,Oppermann H C,Swensson O,Bouloux P,Meitinger T

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses;Ballabio, A.; Andria, G.;Hum Mol Genet,1992

2. Deletions of the steroid sulphatase in classical X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann's syndrome;Ballabio, A.; Sebastio, G.; Carozzo, R.;Hum Genet,1987

3. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implication of X-Y interchange;Yen, P.H.; Allen, E.; Marsh, B.;Cell,1987

4. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules;Franco, B.; Guioli, S.; Pragliola, A.;Nature,1992

5. The candidate gene for the C-linked Kallmann syndrome encodes a protein related to adhesion molecules;Legouis, R.; Hardelin, J.P.; Levilliers, J.;Cell,1992

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