Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome (Q34155302)

31 July 2017

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome (English)

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31 July 2017

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4

Rafael Gorodischer

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Brian F Meyer

Brian F Meyer

12

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Eli Hershkovitz

Eli Hershkovitz

2

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Bart L Loeys

Bart Loeys

5

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Geert Mortier

Geert Mortier

7

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author name string

Ruti Parvari

1

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31 July 2017

Nili Grossman

3

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31 July 2017

Rafael Gorodischer

4

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31 July 2017

Alexandra Zecic

6

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31 July 2017

Simon Gregory

8

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31 July 2017

Reuven Sharony

9

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31 July 2017

Marios Kambouris

10

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31 July 2017

Nadia Sakati

11

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31 July 2017

Aida I Al Aqeel

13

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31 July 2017

Abdul Karim Al Humaidan

14

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31 July 2017

Fatma Al Zanhrani

15

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31 July 2017

Abdulrahman Al Swaid

16

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31 July 2017

Johara Al Othman

17

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31 July 2017

George A Diaz

18

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Rory Weiner

19

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31 July 2017

K Tahseen S Khan

20

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31 July 2017

Ronald Gordon

21

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31 July 2017

HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium

23

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31 July 2017

language of work or name

English

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publication date

21 October 2002

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31 July 2017

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32

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448-452

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3

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https://scigraph.springernature.com/pub.10.1038/ng1012

31 July 2017

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cites work

A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features

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Short stature, mental retardation, and hypoparathyroidism: a new syndrome

21 January 2018

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Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43

21 January 2018

1 reference

The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.

21 January 2018

1 reference

Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.

21 January 2018

1 reference

Prediction of complete gene structures in human genomic DNA

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Chaperonin-mediated folding of actin and tubulin

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Tubulin subunits exist in an activated conformational state generated and maintained by protein cofactors

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21 January 2018

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Functional dissection and hierarchy of tubulin-folding cofactor homologues in fission yeast

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Polarization of the Golgi apparatus and the microtubule-organizing center within cloned natural killer cells bound to their targets

21 January 2018

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21 January 2018

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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

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Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

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Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

21 January 2018

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A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

21 January 2018

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Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

21 January 2018

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Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22

21 January 2018

1 reference

Positional cloning of the gene for X-linked retinitis pigmentosa 2

21 January 2018

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Tandem repeats finder: a program to analyze DNA sequences

21 January 2018

1 reference

Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Role of microtubules in the organization of the Golgi complex

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1012

1 reference

31 July 2017

1 reference