与先天性巨舌症及其他异常相关的染色体异常。 - Suppr

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超能文献

Chromosomal abnormality associated with congenital macroglossia and other abnormalities.

作者信息

Smith G F, Sachdeva S, Janakiraman N, Sinha S N

出版信息

J Med Genet. 1974 Dec;11(4):406-10. doi: 10.1136/jmg.11.4.406.

DOI:10.1136/jmg.11.4.406

PMID:4443993

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013220/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa0a/1013220/aebc828d77ba/jmedgene00321-0090-a.jpg

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引用本文的文献

Studies of malformation syndromes of man XXIX: the Wiedemann-Beckwith syndrome. Clinical, genetic and pathogenetic studies of 12 cases.人类畸形综合征研究二十九：维德曼-贝克威思综合征。12例临床、遗传及发病机制研究。

Eur J Pediatr. 1976 Oct 1;123(3):139-66. doi: 10.1007/BF00452093.

本文引用的文献

[FAMILIAL MALFORMATION COMPLEX WITH UMBILICAL HERNIA AND MACROGLOSSIA--A "NEW SYNDROME"?].[伴有脐疝和巨舌症的家族性畸形综合征——一种“新综合征”？]

J Genet Hum. 1964 Sep;13:223-32.

New syndrome of neonatal hypoglycemia. Association with visceromegaly, macroglossia, microcephaly and abnormal umbilicus.新生儿低血糖新综合征。与内脏肿大、巨舌、小头畸形及脐异常相关。

N Engl J Med. 1966 Aug 4;275(5):236-43. doi: 10.1056/NEJM196608042750502.

[Exomphalos-makroglossy-gigantism-syndrome, gneralized muscular hypertrophy, progressive lipodystrophy and Miescher's syndrome--congenital diencephalic syndromes?].[脐膨出-巨舌-巨人症综合征、全身性肌肉肥大、进行性脂肪营养不良和米舍尔综合征——先天性间脑综合征？]

Z Kinderheilkd. 1968;102(1):1-36.

[Complex chromosome changes bearing on the autosomes accompanying cranio-facial abnormalities and an umbilical hernia].

C R Acad Hebd Seances Acad Sci D. 1966 Jan 17;262(3):386-9.

Exomphalos with macroglossia: a study of eleven cases.

J Pediatr Surg. 1967 Dec;2(6):499-507. doi: 10.1016/s0022-3468(67)80003-4.

Distinction between extra G-like chromosomes by quinacrine mustard fluorescence analysis.通过喹吖因芥子荧光分析区分额外的G样染色体。

Exp Cell Res. 1970 Nov;63(1):240-3. doi: 10.1016/0014-4827(70)90363-0.

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