Literature DB >> 2769725

Hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum.

J P Fryns1, K Chrzanowska, H Van den Berghe.   

Abstract

In this report we present the unique combination of hypohidrotic ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum in a two year old, severely mentally retarded boy.

Entities:  

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Year:  1989        PMID： 2769725      PMCID： PMC1015675          DOI： 10.1136/jmg.26.8.520

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


  8 in total

1.  Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote.

Authors:  E Passarge; E Fries
Journal:  Birth Defects Orig Artic Ser       Date:  1977

2.  Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity.

Authors:  R J Gorlin; T Old; V E Anderson
Journal:  Z Kinderheilkd       Date:  1970

3.  Clinical spectrum of anhidrotic ectodermal dysplasia.

Authors:  W B Reed; D A Lopez; B Landing
Journal:  Arch Dermatol       Date:  1970-08

4.  Agenesis of the corpus callosum and macrocephaly in siblings.

Authors:  I D Young; J Q Trounce; M I Levene; J S Fitzsimmons; J R Moore
Journal:  Clin Genet       Date:  1985-09       Impact factor: 4.438

5.  Intellectual functioning and ectodermal dysplasia.

Authors:  B A Tanner
Journal:  Pediatrics       Date:  1985-01       Impact factor: 7.124

Review 6.  Hypohidrotic ectodermal dysplasia.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

7.  Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred.

Authors:  E Passarge; C T Nuzum; W K Schubert
Journal:  Humangenetik       Date:  1966

8.  Hypohidrotic ectodermal dysplasia with hypothyroidism.

Authors:  H F Pabst; O Groth; E E McCoy
Journal:  J Pediatr       Date:  1981-02       Impact factor: 4.406
  8 in total
  5 in total

1.  Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?

Authors:  D Soekarman; J P Fryns
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

2.  NF-κB Essential Modulator (NEMO) Is Critical for Thyroid Function.

Authors:  Carla Reale; Anna Iervolino; Ivan Scudiero; Angela Ferravante; Luca Egildo D'Andrea; Pellegrino Mazzone; Tiziana Zotti; Antonio Leonardi; Luca Roberto; Mariastella Zannini; Tiziana de Cristofaro; Muralitharan Shanmugakonar; Giovambattista Capasso; Manolis Pasparakis; Pasquale Vito; Romania Stilo
Journal:  J Biol Chem       Date:  2016-01-19       Impact factor: 5.157

3.  Mental retardation, distinct craniofacial dysmorphism, and central nervous system malformation: confirmation of a syndrome.

Authors:  K Devriendt; L D'Espallier; J P Fryns
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

4.  Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?

Authors:  M Silengo; L Silvestro; G Capizzi; M Lerone; M Seri; L Rosaia; G Romeo
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

5.  Lipomatous myelomeningocele, athyrotic hypothyroidism, and sensorineural deafness: a new form of syndromal deafness?

Authors:  H L Peters; A Bankier
Journal:  J Med Genet       Date:  1998-11       Impact factor: 6.318
  5 in total

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