Literature DB >> 29864040

Robinow syndrome: a diagnosis at the fingertips.

Chaya N Murali1, Beth Keena, Elaine H Zackai.   

Abstract

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Mesh：

Year:  2018        PMID： 29864040      PMCID： PMC6126946          DOI： 10.1097/MCD.0000000000000230

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  6 in total

1.  The Robinow syndrome: an isolated case with a detailed study of the phenotype.

Authors:  T E Kelly; R Benson; S Temtamy; L Plotnick; S Levin
Journal:  Am J Dis Child       Date:  1975-03

2.  Robinow syndrome in monozygotic twins with normal stature.

Authors:  J M Saraiva; I Cordeiro; H G Santos
Journal:  Clin Dysmorphol       Date:  1999-04       Impact factor: 0.816

3.  DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

Authors:  Janson J White; Juliana F Mazzeu; Alexander Hoischen; Yavuz Bayram; Marjorie Withers; Alper Gezdirici; Virginia Kimonis; Marloes Steehouwer; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; Bregje W M van Bon; V Reid Sutton; James R Lupski; Han G Brunner; Claudia M B Carvalho
Journal:  Am J Hum Genet       Date:  2016-02-25       Impact factor: 11.025

4.  Robinow dwarfing syndrome accompanied by penile agenesis and hemivertebrae.

Authors:  J M Vera-Roman
Journal:  Am J Dis Child       Date:  1973-08

5.  Midline cleft of the lower lip associated with Robinow syndrome.

Authors:  Eksal Kargi; Ceyda Acun; Nazan Tomaç; Ahmet Savranlar; Ahmet Dursun; Orhan Babuccu
Journal:  Scand J Plast Reconstr Surg Hand Surg       Date:  2004

6.  Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome).

Authors:  W B Wadlington; V L Tucker; R N Schimke
Journal:  Am J Dis Child       Date:  1973-08
  6 in total
  1 in total

1.  Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Authors:  Chaofan Zhang; Angad Jolly; Brian J Shayota; Juliana F Mazzeu; Haowei Du; Moez Dawood; Patricia Celestino Soper; Ariadne Ramalho de Lima; Bárbara Merfort Ferreira; Zeynep Coban-Akdemir; Janson White; Deborah Shears; Fraser Robert Thomson; Sarah Louise Douglas; Andrew Wainwright; Kathryn Bailey; Paul Wordsworth; Mike Oldridge; Tracy Lester; Alistair D Calder; Katja Dumic; Siddharth Banka; Dian Donnai; Shalini N Jhangiani; Lorraine Potocki; Wendy K Chung; Sara Mora; Hope Northrup; Myla Ashfaq; Jill A Rosenfeld; Kati Mason; Lynda C Pollack; Allyn McConkie-Rosell; Wei Kelly; Marie McDonald; Natalie S Hauser; Peter Leahy; Cynthia M Powell; Raquel Boy; Rachel Sayuri Honjo; Fernando Kok; Lucia R Martelli; Vicente Odone Filho; Donna M Muzny; Richard A Gibbs; Jennifer E Posey; Pengfei Liu; James R Lupski; V Reid Sutton; Claudia M B Carvalho
Journal:  HGG Adv       Date:  2021-12-03
  1 in total

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