ACHONDROGENESIS - A REVIEW WITH SPECIAL CONSIDERATION OF ACHONDROGENESIS TYPE-II (LANGER-SALDINO)

被引:25
|
作者
CHEN, H
LIU, CT
YANG, SS
机构
[1] WOMEN & INFANTS HOSP RHODE ISL,DEPT PATHOL,PROVIDENCE,RI 02908
[2] WILLIAM BEAUMONT HOSP,DEPT ANAT PATHOL,ROYAL OAK,MI 48072
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1981年 / 10卷 / 04期
关键词
D O I
10.1002/ajmg.1320100411
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:379 / 394
页数:16
相关论文
共 50 条
  • [31] Novel missense COL2A1 variant in a fetus with achondrogenesis type II
    Yukari Kobayashi
    Yuki Ito
    Kosuke Taniguchi
    Kana Harada
    Michihiro Yamamura
    Taisuke Sato
    Ken Takahashi
    Hiroshi Kawame
    Kenichiro Hata
    Osamu Samura
    Aikou Okamoto
    Human Genome Variation, 9
  • [32] A case of achondrogenesis type II associated with huge cystic hygroma: prenatal diagnosis by ultrasonography
    Won, HS
    Yoo, HK
    Lee, PR
    Lee, IS
    Kim, A
    Nam, JH
    Mok, JE
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 1999, 14 (04) : 288 - 290
  • [33] Novel missense COL2A1 variant in a fetus with achondrogenesis type II
    Kobayashi, Yukari
    Ito, Yuki
    Taniguchi, Kosuke
    Harada, Kana
    Yamamura, Michihiro
    Sato, Taisuke
    Takahashi, Ken
    Kawame, Hiroshi
    Hata, Kenichiro
    Samura, Osamu
    Okamoto, Aikou
    HUMAN GENOME VARIATION, 2022, 9 (01)
  • [34] Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
    Körkkö, J
    Cohn, DH
    Ala-Kokko, L
    Krakow, D
    Prockop, DJ
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (02): : 95 - 100
  • [35] A 6.7 kb deletion in the COL2A1 gene in a Holstein calf with achondrogenesis type II and perosomus elumbis
    Jacinto, Joana G. P.
    Hafliger, Irene M.
    Gentile, Arcangelo
    Drogemuller, Cord
    Bolcato, Marilena
    ANIMAL GENETICS, 2021, 52 (02) : 244 - 245
  • [36] A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions
    Bruni, Valentina
    Spoleti, Cristina Barbara
    La Barbera, Andrea
    Dattilo, Vincenzo
    Colao, Emma
    Votino, Carmela
    Bellacchio, Emanuele
    Perrotti, Nicola
    Giglio, Sabrina
    Iuliano, Rodolfo
    GENES, 2021, 12 (09)
  • [37] A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father
    Forzano, F.
    Lituania, M.
    Viassolo, V.
    Superti-Furga, A.
    Wildhardt, G.
    Zabel, B.
    Faravelli, F.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (23) : 2815 - 2820
  • [38] SPECIAL DIET FOR FAMILIAL TYPE-II HYPERLIPOPROTEINEMIA
    LARSEN, R
    GLUECK, CJ
    TSANG, R
    AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1974, 128 (01): : 67 - 72
  • [39] SUBSTITUTION OF ASPARTIC-ACID FOR GLYCINE AT POSITION-310 IN TYPE-II COLLAGEN PRODUCES ACHONDROGENESIS-II, AND SUBSTITUTION OF SERINE AT POSITION-805 PRODUCES HYPOCHONDROGENESIS - ANALYSIS OF GENOTYPE-PHENOTYPE RELATIONSHIPS
    BONAVENTURE, J
    COHENSOLAL, L
    RITVANIEMI, P
    VANMALDERGEM, L
    KADHOM, N
    DELEZOIDE, AL
    MAROTEAUX, P
    PROCKOP, DJ
    ALAKOKKO, L
    BIOCHEMICAL JOURNAL, 1995, 307 : 823 - 830
  • [40] TRICHO-RHINO-PHALANGEAL SYNDROME TYPE-II - LANGER-GIEDION SYNDROME
    MURACHI, S
    ITOH, H
    SUGIURA, Y
    JAPANESE JOURNAL OF HUMAN GENETICS, 1979, 24 (01): : 27 - 36