A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: genotype does not always correlate with phenotype.

Author:

Evans B A,Bowen D J,Smith P J,Clayton P E,Gregory J W

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. Gonadotropinindependent familial sexual precocity with premature leydig and germinal cell maturation (familial testotoxicosis): effects of a potent luteinizing hormone releasing factor agonist and medroxyprogesterone acetate therapy in four cases..7 Clin Endocrinol Metab 1983; 57;Rosenthal, S.M.; Grumbach, M.M.; Kaplan, S.L.

2. Puberty without gonadotrophins: a unique mechanism of sexual development;Wierman, M.E.; Beardsworth, D.E.; Mansfield, J.,1985

3. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty;Shenker, A.; Laue, L.; Kosugi, S.;Nature,1993

4. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty;Kremer, H.; Mariman, E.; Otten, B.J.;Hum Mol Genet,1993

5. A sporadic case of malelimited precocious puberty has the same constitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases. _7 Clin Endocrinol Metab;Yano, K.; Hidaka, A.; Saji, M.,1994

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