合計: 5 |
|
PMID (PMCID) | ||
---|---|---|
23332201 |
FEMALE | |
Genotype and phenotype heterogeneity in perrault syndrome. | ||
Kim MJ, Kim SJ, Kim J, Chae H, Kim M, Kim Y. J Pediatr Adolesc Gynecol. 2013;26(1):e25-7. |
||
We report a 15-year-old girl with gonadal dysgenesis, unilateral sensorineural deafness, cataracts in both eyes, and Marfanoid body proportions diagnosed Perrault syndrome. | ||
23087880 (3475920) |
OTHER | |
A rare cause for primary amenorrhea: Sporadic perrault syndrome. | ||
Ameen KH, Pinninti R. Indian J Endocrinol Metab. 2012;16(5):843-5. |
||
Perrault syndrome is a rare autosomal recessive condition affecting both females and males, only females have gonadal dysgenesis associated with sensorineural deafness which is present in both sexes. | ||
23087880 (3475920) |
OTHER | |
A rare cause for primary amenorrhea: Sporadic perrault syndrome. | ||
Ameen KH, Pinninti R. Indian J Endocrinol Metab. 2012;16(5):843-5. |
||
In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault syndrome. | ||
23162364 (3493840) |
OTHER | |
A rare cause for primary amenorrhoea. | ||
Ameen KH, Pinninti R. J Hum Reprod Sci. 2012;5(2):218-20. |
||
Perrault syndrome is a rare autosomal recessive condition affecting both females and males; only females have gonadal dysgenesis associated with sensorineural deafness, which is present in both sexes. | ||
15216544 |
FEMALE | Adult |
Perrault syndrome: evidence for progressive nervous system involvement. | ||
Fiumara A, Sorge G, Toscano A, Parano E, Pavone L, Opitz JM. Am J Med Genet A. 2004;128A(3):246-9. |
||
Perrault syndrome (PS) comprises gonadal dysgenesis and sensorineural deafness in females, and deafness in affected males. |