ON SARAIVA AND BARAITSER AND JOUBERT SYNDROME - A REVIEW

被引：5

作者：

DIROCCO, M

机构：

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 46卷 / 06期

关键词：

D O I：

10.1002/ajmg.1320460630

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：732 / 732

页数：1

共 8 条

[1] A NEW SYNDROME WITH FEATURES OF THE SMITH-LEMLI-OPITZ AND MECKEL-GRUBER SYNDROMES IN A SIBSHIP WITH CEREBELLAR DEFECTS [J].

CASAMASSIMA, AC ;

MAMUNES, P ;

GLADSTONE, IM ;

SOLOMON, S ;

MONCURE, C .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 26 (02) :321-336

[2]

DIROCCO M, 1992, 30TH ANN S SSIEM LEU

[3] SIALIC ACID-DEFICIENT SERUM AND CEREBROSPINAL-FLUID TRANSFERRIN IN A NEWLY RECOGNIZED GENETIC SYNDROME [J].

JAEKEN, J ;

VANEIJK, HG ;

VANDERHEUL, C ;

CORBEEL, L ;

EECKELS, R ;

EGGERMONT, E .

CLINICA CHIMICA ACTA, 1984, 144 (2-3) :245-247

[4]

Jaeken J, 1991, ACTA PAEDIATR SC S, V375, P6

[5] JOUBERT SYNDROME - A REVIEW [J].

SARAIVA, JM ;

BARAITSER, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (04) :726-731

[6]

STIBLER H, 1991, ACTA PAEDIATR SC S, V375, P21

[7] AN AUTOSOMAL RECESSIVE MENTAL-RETARDATION SYNDROME WITH HEPATIC-FIBROSIS AND RENAL CYSTS [J].

THOMPSON, E ;

BARAITSER, M .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (01) :151-158

[8] DANDY-WALKER MALFORMATION (VARIANT), CYSTIC DYSPLASTIC KIDNEYS, AND HEPATIC-FIBROSIS - A DISTINCT ENTITY OR MECKEL SYNDROME [J].

WALPOLE, IR ;

GOLDBLATT, J ;

HOCKEY, A ;

KNOWLES, S .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 39 (03) :294-298

← 1 →