PENA-SHOKEIR PHENOTYPE IN SIBS WITH MACROCEPHALY BUT WITHOUT GROWTH-RETARDATION

被引：8

作者：

LAMMER, EJ

DONNELLY, S

HOLMES, LB

机构：

[1] MASSACHUSETTS GEN HOSP,EMBRYOL TREATOL UNIT,BOSTON,MA 02114

[2] MASSACHUSETTS GEN HOSP,DEPT PATHOL,BOSTON,MA 02114

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1989年 / 32卷 / 04期

关键词：

D O I：

10.1002/ajmg.1320320409

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：478 / 481

页数：4

共 29 条

[1] PATHOLOGICAL FEATURES IN 2 SIBLINGS WITH THE PENA-SHOKEIR-I-SYNDROME [J].

BISCEGLIA, M ;

ZELANTE, L ;

BOSMAN, C ;

CERA, R ;

DALLAPICCOLA, B .

EUROPEAN JOURNAL OF PEDIATRICS, 1987, 146 (03) :283-287

[2] THE PENA-SHOKEIR SYNDROME - REPORT OF 5 CASES AND FURTHER DELINEATION OF THE SYNDROME [J].

CHEN, H ;

BLUMBERG, B ;

IMMKEN, L ;

LACHMAN, R ;

RIGHTMIRE, D ;

FOWLER, M ;

BACHMAN, R ;

BEEMER, FA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (02) :213-224

[3] DISTURBANCES IN NEURONAL MIGRATION AND LAMINAR CORTICAL ORGANIZATION ASSOCIATED WITH MULTICYSTIC ENCEPHALOPATHY IN THE PENA-SHOKEIR SYNDROME [J].

CHOI, BH ;

RUESS, WR ;

KIM, RC .

ACTA NEUROPATHOLOGICA, 1986, 69 (3-4) :177-183

[4] NEUROPATHOLOGIC FINDINGS IN THE SPINAL CORDS OF 10 INFANTS WITH ARTHROGRYPOSIS [J].

CLARREN, SK ;

HALL, JG .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1983, 58 (01) :89-102

[5]

Dimmick J E, 1977, Birth Defects Orig Artic Ser, V13, P133

[6]

Elias S, 1978, Birth Defects Orig Artic Ser, V14, P243

[7]

Feingold M, 1974, Birth Defects Orig Artic Ser, V10, P1

[8]

GRUENWALD P, 1967, ADV REPRODUCTIVE PHY, V2, P280

[9] THE HETEROGENEITY OF THE PENA-SHOKEIR SYNDROME [J].

HAGEMAN, G ;

WILLEMSE, J ;

VANKETEL, BA ;

BARTH, PG ;

LINDHOUT, D .

NEUROPEDIATRICS, 1987, 18 (01) :45-50

[10] ANALYSIS OF PENA SHOKEIR PHENOTYPE [J].

HALL, JG .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (01) :99-117

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