Literature DB >> 3963113

Congenital trichomegaly, pigmentary retinal degeneration, and short stature.

M A Patton, A E Harding, M Baraitser.   

Abstract

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Year:  1986        PMID： 3963113     DOI： 10.1016/0002-9394(86)90656-2

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN： 0002-9394            Impact factor:   5.258


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  3 in total

1.  Congenital trichomegaly (Oliver-McFarlane syndrome): a case report with 9 years' follow up.

Authors:  C Haritoglou; G Rudolph; P Kalpadakis; K P Boergen
Journal:  Br J Ophthalmol       Date:  2003-01       Impact factor: 4.638

2.  Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.

Authors:  I K Jalili
Journal:  J Med Genet       Date:  1989-08       Impact factor: 6.318

3.  Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Authors:  Robert B Hufnagel; Gavin Arno; Nichole D Hein; Joshua Hersheson; Megana Prasad; Yvonne Anderson; Laura A Krueger; Louise C Gregory; Corinne Stoetzel; Thomas J Jaworek; Sarah Hull; Abi Li; Vincent Plagnol; Christi M Willen; Thomas M Morgan; Cynthia A Prows; Rashmi S Hegde; Saima Riazuddin; Gregory A Grabowski; Rudy J Richardson; Klaus Dieterich; Taosheng Huang; Tamas Revesz; J P Martinez-Barbera; Robert A Sisk; Craig Jefferies; Henry Houlden; Mehul T Dattani; John K Fink; Helene Dollfus; Anthony T Moore; Zubair M Ahmed
Journal:  J Med Genet       Date:  2014-12-05       Impact factor: 6.318
  3 in total

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