Literature DB >> 1103993

An autosomal recessive form of lethal chondrodystrophy with severe thoracic narrowing, rhizoacromelic type of micromelia, polydacytly and genital anomalies.

I C Verma, S Bhargava, S Agarwal.   

Abstract

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Year:  1975        PMID: 1103993

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


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  10 in total

1.  Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Authors:  D Sillence; K Kozlowski; J Bar-ziv; A Fuhrumann-Rieger; W Fuhrmann; F Pascu
Journal:  Pediatr Radiol       Date:  1987

2.  Lethal short rib-polydactyly syndromes: further evidence for their overlapping in a continuous spectrum.

Authors:  M L Martínez-Frías; E Bermejo; M Urioste; H Huertas; I Arroyo
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

3.  Short rib polydactyly syndrome-Type I.

Authors:  S Sridhar; Ravi Kishore; Niranjan Thomas; Atanu Kumar Jana
Journal:  Indian J Pediatr       Date:  2004-04       Impact factor: 1.967

4.  Short rib-polydactyly syndrome type I, Saldino-Noonan.

Authors:  N Kaibara; M Eguchi; K Shibata; K Takagishi
Journal:  Eur J Pediatr       Date:  1980       Impact factor: 3.183

5.  Short rib-polydactyly syndrome: a single or heterogeneous entity? A re-evaluation prompted by four new cases.

Authors:  R Bernstein; J Isdale; M Pinto; J Du Toit Zaaijman; T Jenkins
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

Review 6.  Skeletal ciliopathies: a pattern recognition approach.

Authors:  Atsuhiko Handa; Ulrika Voss; Anna Hammarsjö; Giedre Grigelioniene; Gen Nishimura
Journal:  Jpn J Radiol       Date:  2020-01-21       Impact factor: 2.374

7.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

8.  Short rib polydactyly syndrome - type 2 (Majewski).

Authors:  Vrinda Nair; K L Prakash; B Vishnu Bhat
Journal:  Indian J Pediatr       Date:  2007-11       Impact factor: 1.967

9.  Medical genetics and genomic medicine in India: current status and opportunities ahead.

Authors:  Shagun Aggarwal; Shubha R Phadke
Journal:  Mol Genet Genomic Med       Date:  2015-05       Impact factor: 2.183

Review 10.  A review of skeletal dysplasia research in India.

Authors:  A Uttarilli; H Shah; A Shukla; K M Girisha
Journal:  J Postgrad Med       Date:  2018 Apr-Jun       Impact factor: 1.476

  10 in total

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