(Q39546773)

12 September 2017

title

Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome (English)

1 reference

terminal osseous dysplasia with pigmentary defects

12 September 2017

main subject

1 reference

Bacino CA

1

1 reference

12 September 2017

Stockton DW

2

1 reference

12 September 2017

Sierra RA

3

1 reference

12 September 2017

Heilstedt HA

4

1 reference

12 September 2017

Lewandowski R

5

1 reference

12 September 2017

Van den Veyver IB

6

1 reference

12 September 2017

publication date

1 September 2000

1 reference

American Journal of Medical Genetics Part A

12 September 2017

published in

1 reference

12 September 2017

volume

94

1 reference

12 September 2017

issue

2

1 reference

12 September 2017

page(s)

102-112

1 reference

Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3.

12 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

STUDIES OF A FAMILY WITH THE ORAL-FACIAL-DIGITAL SYNDROME.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

A syndrome of digital fibromas, facial pigmentary dysplasia, and metacarpal and metatarsal disorganization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Mechanisms of limb patterning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Molecular models for vertebrate limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Recurring digital fibroma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Infantile digital fibroma--report on eleven cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Variable expression in focal dermal hypoplasia. An example of differential X-chromosome inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

X-linked dominant inherited diseases with lethality in hemizygous males

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

Terminal osseous dysplasia with pigmentary defects maps to human chromosome Xq27.3-xqter

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820000911%2994%3A2%3C102%3A%3AAID-AJMG2%3E3.0.CO%3B2-X

10.1002/1096-8628(20000911)94:2<102::AID-AJMG2>3.0.CO;2-X

21 January 2018

Identifiers

DOI

1 reference

release_auuhypsnfzdujoh4c6f32lbrsy

12 September 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/auuhypsnfzdujoh4c6f32lbrsy

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference