A NEW CATEGORY OF LETHAL SHORT-LIMBED DWARFISM

被引：9

作者：

KNOWLES, S

WINTER, R

RIMOIN, D

机构：

[1] UNIV CALIF LOS ANGELES,LOS ANGELES CTY HARBOR MED CTR,DIV MED GENET,TORRANCE,CA 90509

[2] KENNEDY GALTON CTR CLIN GENET,RADLETT,HERTS,ENGLAND

[3] NORTHWICK PK HOSP,DEPT PATHOL,HARROW HA1 3UJ,MIDDX,ENGLAND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1986年 / 25卷 / 01期

关键词：

D O I：

10.1002/ajmg.1320250106

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：41 / 46

页数：6

共 9 条

[1]

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[2] DISCORDANCE FOR THE KLEEBLATTSCHADEL ANOMALY IN MONOZYGOTIC TWINS WITH THANATOPHORIC DYSPLASIA [J].

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[3] FURTHER HETEROGENEITY WITHIN LETHAL NEONATAL SHORT-LIMBED DWARFISM - PLATYSPONDYLIC TYPES [J].

HORTON, WA ;

RIMOIN, DL ;

HOLLISTER, DW ;

LACHMAN, RS .

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[4] FAMILY WITH PROBABLE ACHONDROGENESIS AND LIPID INCLUSIONS IN FIBROBLASTS [J].

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TIMOTHY, JAD .

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[5] THE ROLE OF MESENCHYME-LIKE TISSUE IN THE PATHOGENESIS OF THANATOPHORIC DYSPLASIA [J].

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ADOMIAN, GE ;

ETESON, DJ ;

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RIMOIN, DL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (04) :613-630

[6] CLOVERLEAF SKULL AND THANATOPHORIC DWARFISM - REPORT OF 4 CASES, 2 IN SAME SIBSHIP [J].

PARTINGT.MW ;

GONZALES.F ;

KHAKEE, SG ;

WOLLIN, DG .

ARCHIVES OF DISEASE IN CHILDHOOD, 1971, 46 (249) :656-+

[7]

RIMOIN D L, 1974, Birth Defects Original Article Series, V10, P1

[8] LETHAL, NEONATAL, SHORT-LIMBED PLATYSPONDYLIC DWARFISM - A FURTHER VARIANT [J].

WINTER, RM ;

THOMPSON, EM .

HUMAN GENETICS, 1982, 61 (03) :269-272

[9]

Yang S S, 1976, Perspect Pediatr Pathol, V3, P1

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