X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"?

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作者信息

Seemanová E, Lesný I, Hyánek J, Brachfeld K, Rössler M, Prosková M

出版信息

Humangenetik. 1973;20(2):113-7. doi: 10.1007/BF00284845.

DOI:10.1007/BF00284845

PMID:4274173

Abstract

摘要

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X-chromosomal recessive microcephaly with epilepsy, spastic tetraplegia and absent abdominal reflexes. New variety of "Paine syndrome"?

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引用本文的文献

Genetic aspects of congenital cerebellar ataxia.

Indian J Pediatr. 1986 Nov-Dec;53(6):761-73. doi: 10.1007/BF02748571.

X linked mental retardation: a family with a separate syndrome?

J Med Genet. 1989 Jun;26(6):373-8. doi: 10.1136/jmg.26.6.373.

X linked mental retardation.X连锁智力迟钝

J Med Genet. 1991 Jun;28(6):361-71. doi: 10.1136/jmg.28.6.361.

本文引用的文献

Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria.儿童家族性生化测定智力迟钝的评估，特别提及氨基酸尿症。

N Engl J Med. 1960 Mar 31;262:658-65. doi: 10.1056/NEJM196003312621305.

Intrauterine growth retardation.宫内生长受限

Am J Dis Child. 1961 Aug;102:249-79. doi: 10.1001/archpedi.1961.02080010251018.

[Paper chromatographic studies of amino acid excretion in the urine of brain-injured children].[脑损伤儿童尿液中氨基酸排泄的纸色谱研究]

Monatsschr Kinderheilkd (1902). 1969 Jan;117(1):13-6.

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