(Q33597734)

28 July 2017

title

Alpha thalassaemia/mental retardation syndrome (non-deletional type): report of a family supporting X linked inheritance (English)

1 reference

28 July 2017

1 reference

10.1136/JMG.28.11.734

https://api.crossref.org/works/10.1136/JMG.28.11.734

19 November 2022

author name string

T. R. Cole

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770528

19 November 2022

A. May

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770528

19 November 2022

H. E. Hughes

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770528

19 November 2022

language of work or name

English

0 references

publication date

1 November 1991

1 reference

full work available at URL

28 July 2017

https://europepmc.org/articles/PMC1017106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770528

https://europepmc.org/articles/PMC1017106?pdf=render

19 November 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1770528

https://syndication.highwire.org/content/doi/10.1136/jmg.28.11.734

19 November 2022

1 reference

Crossref

DOI

10.1136/JMG.28.11.734

https://api.crossref.org/works/10.1136/JMG.28.11.734

Journal of Medical Genetics

19 November 2022

published in

1 reference

28 July 2017

volume

28

1 reference

28 July 2017

issue

11

1 reference

28 July 2017

page(s)

734-737

1 reference

Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence?

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017106

Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017106

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017106

A family study of congenital X linked sideroblastic anaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017106

Occurrence of the alpha thalassaemia-mental retardation syndrome (non-deletional type) in an Australian male

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1017106

Iron overload in mild sideroblastic anaemias

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1770528

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.28.11.734

1 reference

28 July 2017

1 reference

28 July 2017

1 reference