X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia.

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作者信息

Perrin J C, Idemoto J Y, Sotos J F, Maurer W F, Steinberg A G

出版信息

Birth Defects Orig Artic Ser. 1976;12(5):267-74.

PMID:182300

Abstract

摘要

相似文献

X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia.

Birth Defects Orig Artic Ser. 1976;12(5):267-74.

Hypogandotropic hypogonadism with anosmia: the Kallmann syndrome.伴有嗅觉缺失的低促性腺激素性性腺功能减退症：卡尔曼综合征。

Birth Defects Orig Artic Ser. 1971 May;7(6):166-71.

Hypogonadotropic hypogonadism in patients with multiple congenital defects.患有多种先天性缺陷患者的低促性腺激素性性腺功能减退症。

Birth Defects Orig Artic Ser. 1971 May;7(6):175-8.

Cryptorchidism in a family with Kallmann's syndrome.患有卡尔曼综合征家族中的隐睾症

Proc R Soc Med. 1974 Jan;67(1):33-5. doi: 10.1177/003591577406700120.

[Kallman's syndrome--hypogonadism and anosmia].

Duodecim. 1975;91(10):649-56.

The Kallmann syndrome.

Birth Defects Orig Artic Ser. 1971 May;7(6):172-4.

The Rud syndrome: ichthyosis, hypogonadism, mental retardation.鲁德综合征：鱼鳞病、性腺功能减退、智力迟钝。

Birth Defects Orig Artic Ser. 1971 Jun;7(8):246-7.

More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia.更多关于X连锁鱼鳞病、类固醇硫酸酯酶缺乏症以及性腺功能减退和嗅觉缺失的内容。

Ann Neurol. 1988 Jan;23(1):103. doi: 10.1002/ana.410230124.

[Effect of clomiphene citrate on FSH and LH levels in 4 cases of hypogonadism with hyposmia or anosmia].[枸橼酸氯米芬对4例性腺功能减退伴嗅觉减退或嗅觉缺失患者促卵泡生成素和促黄体生成素水平的影响]

Ann Endocrinol (Paris). 1972 Nov-Dec;33(6):622-8.

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C.一种新的综合征，表现为嗅觉丧失、鱼鳞病、性腺功能减退以及伴有类固醇硫酸酯酶和芳基硫酸酯酶C缺乏的各种神经学表现。

Ann Neurol. 1986 Feb;19(2):174-81. doi: 10.1002/ana.410190211.

引用本文的文献

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.鱼鳞病、性腺功能减退、智力发育迟缓及癫痫综合征的遗传异质性。对两名Rud综合征患者的临床及生化研究并文献复习。

Eur J Pediatr. 1983 Oct;141(1):8-13. doi: 10.1007/BF00445661.

Steroid sulphatase deficiency and hypogonadism.类固醇硫酸酯酶缺乏症与性腺功能减退。

Eur J Pediatr. 1984 Sep;142(4):304-5. doi: 10.1007/BF00540260.

Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.类固醇硫酸酯酶缺乏症的临床谱：X连锁隐性鱼鳞病、出生并发症和隐睾症。

Eur J Pediatr. 1983 Mar;140(1):19-21. doi: 10.1007/BF00661898.

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.“经典型”X连锁鱼鳞病及与卡尔曼综合征相关的X连锁鱼鳞病中类固醇硫酸酯酶基因的缺失。

Hum Genet. 1987 Dec;77(4):338-41. doi: 10.1007/BF00291422.

The William Allan memorial award address: X-chromosome inactivation and the location and expression of X-linked genes.威廉·艾伦纪念奖演讲：X染色体失活与X连锁基因的定位及表达

Am J Hum Genet. 1988 Jan;42(1):8-16.

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.由于类固醇硫酸酯酶缺乏所致的X连锁鱼鳞病，与卡尔曼综合征（促性腺激素缺乏性性腺功能减退和嗅觉缺失）相关：与Xg以及来自X染色体短臂远端的克隆DNA序列的连锁关系。

Hum Genet. 1986 Mar;72(3):237-40. doi: 10.1007/BF00291885.

Moebius syndrome in association with hypogonadotropic hypogonadism.伴有低促性腺激素性性腺功能减退的莫比乌斯综合征。

J Endocrinol Invest. 1991 Jul-Aug;14(7):599-607. doi: 10.1007/BF03346879.

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