Literature DB >> 566645

Camptomelic dwarfism associated with XY-gonadal dysgenesis and chromosome anomalies.

D Hoefnagel, D H Wuster-Hill, W B Dupree, K Benirschke, G L Fuld.   

Abstract

We have studied two female newborns with comptomelic dwarfism, XY-gonadal dysgenesis and chromosome anomalies. The preponderance of "females" among the hitherto reported cases of this allegedly autosomal recessive form of lethal drawfism may be due to an increased incidence of an associated XY-gonadal dysgenesis.

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Year:  1978        PMID： 566645     DOI： 10.1111/j.1399-0004.1978.tb01204.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis.

Authors:  J L Simpson; N Blagowidow; A O Martin
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

2.  XY Sex-reversed campomelia.

Authors:  R S Trompeter; V Shrubb; J M Heaton; A C Berry
Journal:  Eur J Pediatr       Date:  1981-09       Impact factor: 3.183

3.  Absence of H-Y antigen in an XY female with campomelic dysplasia.

Authors:  S M Puck; F P Haseltine; U Francke
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

Authors:  C Kwok; P A Weller; S Guioli; J W Foster; S Mansour; O Zuffardi; H H Punnett; M A Dominguez-Steglich; J D Brook; I D Young
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025
  4 in total

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