(Q39881667)

15 September 2017

title

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue (English)

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15 September 2017

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17

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15 September 2017

18

Jay Shendure

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15 September 2017

24

Fowzan S Alkuraya

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15 September 2017

23

Ranad Shaheen

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15 September 2017

Anas M Alazami

1

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15 September 2017

Sarah M Al-Qattan

2

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15 September 2017

Eissa Faqeih

3

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15 September 2017

Amal Alhashem

4

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15 September 2017

Muneera Alshammari

5

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15 September 2017

Fatema Alzahrani

6

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15 September 2017

Mohammed S Al-Dosari

7

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15 September 2017

Nisha Patel

8

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15 September 2017

Afaf Alsagheir

9

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15 September 2017

Bassam Binabbas

10

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15 September 2017

Hamad Alzaidan

11

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15 September 2017

Abdulmonem Alsiddiky

12

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15 September 2017

Nasser Alharbi

13

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15 September 2017

Majid Alfadhel

14

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15 September 2017

Amal Kentab

15

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15 September 2017

Riza M Daza

16

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15 September 2017

Mais Hashem

19

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15 September 2017

Saif Alshahrani

20

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15 September 2017

Zuhair Rahbeeni

21

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15 September 2017

Ola Khalifa

22

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15 September 2017

publication date

29 March 2016

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15 September 2017

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15 September 2017

volume

135

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15 September 2017

issue

5

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15 September 2017

page(s)

525-540

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Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

15 September 2017

cites work

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https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

The Ehlers-Danlos syndrome, a disorder with many faces

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Impaired abdominal wall development and deficient wound healing in mice lacking aortic carboxypeptidase-like protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

The Ehlers-Danlos syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Recessive osteogenesis imperfecta caused by missense mutations in SPARC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

Specification of ion transport cells in the Xenopus larval skin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

International nosology of heritable disorders of connective tissue, Berlin, 1986

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-016-1660-Z

v-ATPase V0 subunit d2-deficient mice exhibit impaired osteoclast fusion and increased bone formation

21 January 2018

1 reference

12 December 2020

Aortic carboxypeptidase-like protein is expressed in collagen-rich tissues during mouse embryonic development

1 reference

12 December 2020

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome

1 reference

12 December 2020

A case of de Barsy syndrome with a severe eye phenotype

1 reference

12 December 2020

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

1 reference

12 December 2020

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature

1 reference

12 December 2020

10.1007/S00439-016-1660-Z

Identifiers

DOI

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15 September 2017

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