Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster (Q33680030)

28 July 2017

Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster (English)

1 reference

28 July 2017

0 references

Kenny-Caffey syndrome

1 reference

Sabry MA

1

1 reference

28 July 2017

Zaki M

2

1 reference

28 July 2017

Abul Hassan SJ

3

1 reference

28 July 2017

Ramadan DG

4

1 reference

28 July 2017

Abdel Rasool MA

5

1 reference

28 July 2017

al Awadi SA

6

1 reference

28 July 2017

al Saleh Q

7

1 reference

28 July 2017

language of work or name

English

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publication date

1 January 1998

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

35

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28 July 2017

1

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28 July 2017

31-36

1 reference

Localization of the human mitochondrial citrate transporter protein gene to chromosome 22Q11 in the DiGeorge syndrome critical region

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

DiGeorge syndrome: part of CATCH 22.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

The Kenny-Caffey syndrome: Growth retardation and hypocalcemia in a young boy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Kenny syndrome: description of additional abnormalities and molecular studies.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Kenny-Caffey syndrome. Case report and literature review

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Kenny–Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Ocular Findings in Kenny's Syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Structural Organization of the WD repeat protein-encoding gene HIRA in the DiGeorge syndrome critical region of human chromosome 22.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Schizophrenia and chromosomal deletions within 22q11.2.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

Cayler cardiofacial syndrome and del22qll: Part of the CATCH22 phenotype

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051183

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9475091

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Diaphysary tubular stenosis (Kenny-Caffey's syndrome): presentation of four observations (author's transl)]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9475091

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9475091

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.35.1.31

1 reference

28 July 2017

1 reference

28 July 2017

1 reference