Literature DB >> 13707262

Hypertrophied frenuli, oligophrenia, famflial trembling and anomalies of the hand. Report of four casesin one family and a forme fruste in another.

R J GORLIN, V E ANDERSON, C R SCOTT.   

Abstract

Entities:  

Keywords:  ABNORMALITIES/case reports; MENTAL DEFICIENCY/case reports

Mesh：

Year:  1961        PMID： 13707262     DOI： 10.1056/NEJM196103092641004

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  12 in total

1.  Partial-trisomy syndromes. II. An insertion as cause of the OFD syndrome in mother and daughter.

Authors:  K PATAU; E THERMAN; S L INHORN; D W SMITH; A L RUESS
Journal:  Chromosoma       Date:  1961       Impact factor: 4.316

2.  Camptodactyly: occurrence in two new genetic syndromes and its relationship to other syndromes.

Authors:  R M Goodman; M B Katznelson; E Manor
Journal:  J Med Genet       Date:  1972-06       Impact factor: 6.318

3.  Further observations on a pedigree of the oral-facial-digital syndrome.

Authors:  D C Kernohan; J A Dodge
Journal:  Arch Dis Child       Date:  1969-12       Impact factor: 3.791

4.  [Elongated, submetacentric chromosome no. 1. A very rare heterozygote variant in man].

Authors:  B Saner
Journal:  Humangenetik       Date:  1970-08-17

5.  [Contribution to the genetics of the orofaciodigital syndrome].

Authors:  A Stahl; W Fuhrmann; T M Schroeder
Journal:  Fortschr Kieferorthop       Date:  1965

6.  Oral-facial-digital syndrome, with polycystic kidneys and liver: pathological and cytogenetic studies.

Authors:  C C Tucker; S C Finley; E S Tucker; W H Finley
Journal:  J Med Genet       Date:  1966-06       Impact factor: 6.318

Review 7.  Craniofacial ciliopathies: A new classification for craniofacial disorders.

Authors:  Samantha A Brugmann; Dwight R Cordero; Jill A Helms
Journal:  Am J Med Genet A       Date:  2010-12       Impact factor: 2.802

8.  A male with type I orofaciodigital syndrome.

Authors:  J Goodship; J Platt; R Smith; J Burn
Journal:  J Med Genet       Date:  1991-10       Impact factor: 6.318

9.  Autosomal Trisomies and Partial Trisomy Syndromes: (With Presentation of Two Cases of Partial Trisomy for the E Group of Chromosomes).

Authors:  W A Zaleski
Journal:  Can Med Assoc J       Date:  1963-02-23       Impact factor: 8.262

10.  Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II).

Authors:  Ali Al Kaissi; Renata Pospischill; Franz Grill; Rudolf Ganger
Journal:  J Clin Med Res       Date:  2015-10-23
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