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Noonan's syndrome and neurofibromatosis.

作者信息

Shuper A, Mukamel M, Mimouni M, Steinherz R

出版信息

Arch Dis Child. 1987 Feb;62(2):196-8. doi: 10.1136/adc.62.2.196.

Abstract

A child with Noonan syndrome and multiple cafe au lait spots, compatible in size and number with von Recklinghausen's neurofibromatosis, is presented. These features may represent a distinct genetic entity rather than the coincidence of two diseases.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b23a/1778243/713fa0f004b0/archdisch00701-0095-a.jpg

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本文引用的文献

1
Von Recklinghausen neurofibromatosis.冯·雷克林豪森神经纤维瘤病
N Engl J Med. 1981 Dec 31;305(27):1617-27. doi: 10.1056/NEJM198112313052704.
2
The neurofibromatosis-Noonan syndrome.神经纤维瘤病-努南综合征
Am J Med Genet. 1985 Jul;21(3):477-90. doi: 10.1002/ajmg.1320210310.
3
The neurofibromatosis-Noonan syndrome.
Am J Med Genet. 1985 Jul;21(3):471-6. doi: 10.1002/ajmg.1320210309.
4
Noonan syndrome: a review.努南综合征:综述
Am J Med Genet. 1985 Jul;21(3):493-506. doi: 10.1002/ajmg.1320210312.
5
Noonan phenotype associated with neurofibromatosis.
Am J Med Genet. 1985 Jul;21(3):457-62. doi: 10.1002/ajmg.1320210307.

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