Literature DB >> 11261430

Phenotypic differerencss in African Americans with Prader-Willi syndrome.

L Hudgins1, J S Geer, S B Cassidy.   

Abstract

We report on 10 African Americans with Prader-Willi syndrome whose features differ from those of white patients with this condition. Growth is less affected, hand and foot lengths usually are normal, and the facies are atypical; this may lead to underdiagnosis in this population. We encourage clinicians to recognize these phenotypic differences so that diagnosis is not overlooked.

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Year:  1998        PMID: 11261430     DOI: 10.1097/00125817-199811000-00010

Source DB:  PubMed          Journal:  Genet Med        ISSN: 1098-3600            Impact factor:   8.822


  5 in total

1.  Prader-Willi Syndrome: Clinical and Genetic Findings.

Authors:  Merlin G Butler; Travis Thompson
Journal:  Endocrinologist       Date:  2000-07

2.  The 22q11.2 deletion in African-American patients: an underdiagnosed population?

Authors:  Donna M McDonald-McGinn; Nancy Minugh-Purvis; Richard E Kirschner; Abbas Jawad; Melissa K Tonnesen; Jason R Catanzaro; Elizabeth Goldmuntz; Deborah Driscoll; Don Larossa; Beverly S Emanuel; Elaine H Zackai
Journal:  Am J Med Genet A       Date:  2005-04-30       Impact factor: 2.802

3.  Imprinting-mutation mechanisms in Prader-Willi syndrome.

Authors:  T Ohta; T A Gray; P K Rogan; K Buiting; J M Gabriel; S Saitoh; B Muralidhar; B Bilienska; M Krajewska-Walasek; D J Driscoll; B Horsthemke; M G Butler; R D Nicholls
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

4.  Is non-alcoholic fatty liver disease less frequent among women with Prader-Willi syndrome?

Authors:  Giorgio Bedogni; Graziano Grugni; Valerio Nobili; Fiorenza Agosti; Antonella Saezza; Alessandro Sartorio
Journal:  Obes Facts       Date:  2014-02-22       Impact factor: 3.942

5.  Growth charts for Thai children with Prader-Willi syndrome aged 0-18 years.

Authors:  Nantiya Mongkollarp; Thipwimol Tim-Aroon; Chusak Okascharoen; Khunton Wichajarn; Jeeraparn Phosuwattanakul; Nalinee Chongviriyaphan; Duangrurdee Wattanasirichaigoon
Journal:  Orphanet J Rare Dis       Date:  2020-05-06       Impact factor: 4.123

  5 in total

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