Literature DB >> 8411039

Mild phenotypic manifestation of a 7p15.3p21.2 deletion.

C Wang1, S Maynard, T W Glover, L G Biesecker.   

Abstract

A 28 month old girl with dysmorphic features was found to have an interstitial deletion of the short arm of chromosome 7p15.3-7p21.2. The patient had ptosis, dacryostenosis, pectus excavatum, short hands, and her development was normal or mildly delayed. Craniosynostosis and growth retardation, which were present in two other patients with similar deletions, were not present. Because of the mild manifestations, this case expands the clinical spectrum of the 7p15-7p21 deletion phenotype.

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Year:  1993        PMID： 8411039      PMCID： PMC1016466          DOI： 10.1136/jmg.30.7.610

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


  19 in total

1.  Localization of the Goodpasture epitope to a novel chain of basement membrane collagen.

Authors:  R J Butkowski; J P Langeveld; J Wieslander; J Hamilton; B G Hudson
Journal:  J Biol Chem       Date:  1987-06-05       Impact factor: 5.157

2.  Identification of mutations in the COL4A5 collagen gene in Alport syndrome.

Authors:  D F Barker; S L Hostikka; J Zhou; L T Chow; A R Oliphant; S C Gerken; M C Gregory; M H Skolnick; C L Atkin; K Tryggvason
Journal:  Science       Date:  1990-06-08       Impact factor: 47.728

3.  Mapping of Alport syndrome to the long arm of the X chromosome.

Authors:  C L Atkin; S J Hasstedt; L Menlove; L Cannon; N Kirschner; C Schwartz; K Nguyen; M Skolnick
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

4.  Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.

Authors:  R G Cotton; N R Rodrigues; R D Campbell
Journal:  Proc Natl Acad Sci U S A       Date:  1988-06       Impact factor: 11.205

5.  The clinical spectrum of hereditary nephritis.

Authors:  J P Grünfeld
Journal:  Kidney Int       Date:  1985-01       Impact factor: 10.612

Review 6.  Genetics of classic Alport's syndrome.

Authors:  F A Flinter; J S Cameron; C Chantler; I Houston; M Bobrow
Journal:  Lancet       Date:  1988-10-29       Impact factor: 79.321

7.  Localization of the gene for X-linked Alport's syndrome.

Authors:  H Brunner; C Schröder; C van Bennekom; E Lambermon; J Tuerlings; D Menzel; H Olbing; L Monnens; B Wieringa; H H Ropers
Journal:  Kidney Int       Date:  1988-10       Impact factor: 10.612

8.  Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.

Authors:  S L Hostikka; R L Eddy; M G Byers; M Höyhtyä; T B Shows; K Tryggvason
Journal:  Proc Natl Acad Sci U S A       Date:  1990-02       Impact factor: 11.205

9.  Demography of dialysis and transplantation in Europe, 1984. Report from the European Dialysis and Transplant Association Registry.

Authors: 
Journal:  Nephrol Dial Transplant       Date:  1986       Impact factor: 5.992

10.  Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13.

Authors:  C A Griffin; B S Emanuel; J R Hansen; W K Cavenee; J C Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1987-01       Impact factor: 11.205
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  1 in total

1.  Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report.

Authors:  Carina Schinagl; Guro Reinholt Melum; Olaug Kristin Rødningen; Kathrine Bjørgo; Jannicke Hanne Andresen
Journal:  J Med Case Rep       Date:  2017-08-17
  1 in total

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