Literature DB >> 6019437

The oto-palato-digital syndrome. A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia.

B A Dudding, R J Gorlin, L O Langer.   

Abstract

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Mesh：

Year:  1967        PMID： 6019437     DOI： 10.1001/archpedi.1967.02090170078006

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN： 0002-922X


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  10 in total

1.  Association of mutations in FLNA with craniosynostosis.

Authors:  Nathalie Fennell; Nicola Foulds; Diana S Johnson; Louise C Wilson; Michelle Wyatt; Stephen P Robertson; David Johnson; Steven A Wall; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2015-04-15       Impact factor: 4.246

2.  Oto-Palato-Digital syndrome with severe X-ray changes in two half brothers.

Authors:  K Kozlowski; G Turner; J Scougall; J Harrington
Journal:  Pediatr Radiol       Date:  1977-09-01

3.  Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations.

Authors:  H Moghadam; P Statten
Journal:  Can Med Assoc J       Date:  1972-08-19       Impact factor: 8.262

4.  Oto-palato-digital syndrome: comparison of clinical and radiographic manifestations in males and females.

Authors:  J C Gall; A M Stern; A K Poznanski; S M Garn; E D Weinstein; J R Hayward
Journal:  Am J Hum Genet       Date:  1972-01       Impact factor: 11.025

5.  Dominant preaxial brachydactyly with hallux varus and thumb abduction.

Authors:  J C Christian; K S Cho; E A Franken; B H Thompson
Journal:  Am J Hum Genet       Date:  1972-11       Impact factor: 11.025

6.  Oto-palato-digital syndrome.

Authors:  S D Singh; M S Diwedi; M Irani
Journal:  Indian J Pediatr       Date:  1970-03       Impact factor: 1.967

7.  Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: evidence for allelism with OPD1.

Authors:  S P Robertson; S Walsh; M Oldridge; T Gunn; D Becroft; A O Wilkie
Journal:  Am J Hum Genet       Date:  2001-06-06       Impact factor: 11.025

8.  A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation.

Authors:  T Kondoh; N Okamoto; N Norimatsu; M Uetani; G Nishimura; H Moriuchi
Journal:  J Hum Genet       Date:  2007-01-31       Impact factor: 3.172

9.  A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

Authors:  Melissa Lah; Tejasvi Niranjan; Sujata Srikanth; Lynda Holloway; Charles E Schwartz; Tao Wang; David D Weaver
Journal:  Am J Med Genet A       Date:  2016-01-24       Impact factor: 2.802

10.  Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.

Authors:  Ali Al Kaissi; Raimund Kraschl; Wilhelm Kaulfersch; Franz Grill; Rudolf Ganger
Journal:  Clin Case Rep       Date:  2015-08-20
  10 in total

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