Literature DB >> 933111

Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

R M Goodman, M B Katznelson, M Hertz, A Katznelson.   

Abstract

A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome is thought to be transmitted as an autosomal recessive trait. The basic defect is unknown.

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Year:  1976        PMID: 933111      PMCID: PMC1013373          DOI: 10.1136/jmg.13.2.136

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  21 in total

1.  STRUCTURAL STUDIES OF AMINOETHYLATED HEMOGLOBINS BY AUTOMATIC PEPTIDE CHROMATOGRAPHY.

Authors:  R T JONES
Journal:  Cold Spring Harb Symp Quant Biol       Date:  1964

2.  ABNORMAL HUMAN HEMOGLOBINS. X. A STUDY OF HEMOGLOBIN LEPORE BOSTON.

Authors:  C BAGLIONI
Journal:  Biochim Biophys Acta       Date:  1965-01-04

3.  Chemical studies of several varieties of Hb M.

Authors:  P S GERALD; M L EFRON
Journal:  Proc Natl Acad Sci U S A       Date:  1961-11-15       Impact factor: 11.205

4.  Studies on the structure of hemoglobin. I. Physicochemical properties of human globin.

Authors:  A R FANELLI; E ANTONINI; A CAPUTO
Journal:  Biochim Biophys Acta       Date:  1958-12

5.  On the recombination of canine and human haemoglobins.

Authors:  E R HUEHNS; E M SHOOTER; G H BEAVEN
Journal:  J Mol Biol       Date:  1962-05       Impact factor: 5.469

6.  A human hemoglobin with lowered oxygen affinity and impaired heme-heme interactions.

Authors:  K R REISSMANN; W E RUTH; T NOMURA
Journal:  J Clin Invest       Date:  1961-10       Impact factor: 14.808

7.  Some observations on the physicochemical properties of hemoglobin M-Hyde Park.

Authors:  A Hayashi; T Suzuki; A Shimizu; K Imai; H Morimoto
Journal:  Arch Biochem Biophys       Date:  1968-06       Impact factor: 4.013

8.  Various genetic traits and diseases among the Jewish ethnic groups.

Authors:  R M Goodman
Journal:  Birth Defects Orig Artic Ser       Date:  1974

9.  Hemoglobin Casper: beta 106 (G8) Leu leads to Pro; a contemporary mutation.

Authors:  R D Koler; R T Jones; R H Bigley; M Litt; E Lovrien; R Brooks; M E Lahey; R Fowler
Journal:  Am J Med       Date:  1973-10       Impact factor: 4.965

10.  A simple method for the detection of unstable haemoglobins.

Authors:  R W Carrell; R Kay
Journal:  Br J Haematol       Date:  1972-11       Impact factor: 6.998

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  4 in total

1.  A recessively inherited windmill-vane camptodactyly/ichthyosis syndrome.

Authors:  M Baraitser; J Burn; J Fixsen
Journal:  J Med Genet       Date:  1983-04       Impact factor: 6.318

2.  A new camptodactyly syndrome.

Authors:  M Baraitser
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

3.  Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.

Authors:  M A Patton; K D McDermot; B D Lake; M Baraitser
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

Review 4.  The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature.

Authors:  Buddhika T B Wijerathne; Robert J Meier; Suneth B Agampodi
Journal:  J Med Case Rep       Date:  2016-09-20
  4 in total

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