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Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

作者信息

Bick D, Franco B, Sherins R J, Heye B, Pike L, Crawford J, Maddalena A, Incerti B, Pragliola A, Meitinger T, Ballabio A

机构信息

Genetics & IVF Institute, Fairfax, Va.

出版信息

N Engl J Med. 1992 Jun 25;326(26):1752-5. doi: 10.1056/NEJM199206253262606.

DOI:10.1056/NEJM199206253262606
PMID:1594017
Abstract
摘要

相似文献

1
Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.
N Engl J Med. 1992 Jun 25;326(26):1752-5. doi: 10.1056/NEJM199206253262606.
2
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.
Nature. 1991 Oct 10;353(6344):529-36. doi: 10.1038/353529a0.
3
[Association between hypogonadotrophic hypogonadism and familial deafness: a variation of Kallmann's syndrome?].
J Genet Hum. 1976 Nov;24 Suppl:207-14.
4
[Genetic considerations on Kallmann's syndrome (hypogonadotropic hypogenitalism with anosmia)].
Rev Med Suisse Romande. 1978 May;98(5):237-41.
5
X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia.由于类固醇硫酸酯酶缺乏导致的与性腺功能减退和嗅觉缺失相关的X连锁鱼鳞病。
Ann Neurol. 1987 Jul;22(1):98-9. doi: 10.1002/ana.410220130.
6
Heterogeneity of Kallmann's syndrome.
Clin Genet. 1985 Aug;28(2):106-11. doi: 10.1111/j.1399-0004.1985.tb00368.x.
7
Cortically evoked motor responses in patients with Xp22.3-linked Kallmann's syndrome and in female gene carriers.
Ann Neurol. 1992 Mar;31(3):299-304. doi: 10.1002/ana.410310312.
8
Extra chromosome in Kallmann's syndrome.卡尔曼综合征中的额外染色体。
J Med Genet. 1977 Apr;14(2):151-2. doi: 10.1136/jmg.14.2.151-a.
9
Familial spastic paraplegia with Kallmann's syndrome.伴有卡尔曼综合征的家族性痉挛性截瘫
J Neurol Neurosurg Psychiatry. 1983 Jul;46(7):671-4. doi: 10.1136/jnnp.46.7.671.
10
[Kallmann's syndrome. Apropos of 2 personal cases].[卡尔曼综合征。关于2例个人病例]
Acta Otorhinolaryngol Ital. 1991 Nov-Dec;11(6):603-8.

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