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- Publisher Website: 10.1002/ajmg.a.31365
- Scopus: eid_2-s2.0-33746658040
- PMID: 16835919
- WOS: WOS:000239405000010
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Article: Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review
Title | Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review |
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Authors | |
Keywords | Adrenal hypoplasia congenita Adrenal insufficiency Autosomal recessive Cytomegalic adrenal cells |
Issue Date | 2006 |
Publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html |
Citation | American Journal Of Medical Genetics, Part A, 2006, v. 140 n. 16, p. 1778-1784 How to Cite? |
Abstract | Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM 300200) and autosomal recessive (OMIM 240200) forms are recognized. Recently, an association between Intrauterine growth restriction. Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, AHC, and dysmorphic features. Interesting histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the most plausible diagnosis and that autosomal recessive inheritance is likely. We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed. © 2006 Wiley-Liss, Inc. |
Persistent Identifier | http://hdl.handle.net/10722/170372 |
ISSN | 2023 Impact Factor: 1.7 2023 SCImago Journal Rankings: 0.718 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Tan, TY | en_US |
dc.contributor.author | Jameson, JL | en_US |
dc.contributor.author | Campbell, PE | en_US |
dc.contributor.author | Ekert, PG | en_US |
dc.contributor.author | Zacharin, M | en_US |
dc.contributor.author | Savarirayan, R | en_US |
dc.date.accessioned | 2012-10-30T06:07:52Z | - |
dc.date.available | 2012-10-30T06:07:52Z | - |
dc.date.issued | 2006 | en_US |
dc.identifier.citation | American Journal Of Medical Genetics, Part A, 2006, v. 140 n. 16, p. 1778-1784 | en_US |
dc.identifier.issn | 1552-4825 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/170372 | - |
dc.description.abstract | Adrenal hypoplasia congenita (AHC) is a rare condition and causes primary adrenal insufficiency. X-linked (OMIM 300200) and autosomal recessive (OMIM 240200) forms are recognized. Recently, an association between Intrauterine growth restriction. Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital abnormalities (IMAGe syndrome; OMIM 300290) has been described. We present the clinical features of two sisters with intrauterine growth restriction, AHC, and dysmorphic features. Interesting histopathologic findings of one sister are also presented. We suggest that IMAGe syndrome is the most plausible diagnosis and that autosomal recessive inheritance is likely. We analyzed genes that were postulated candidates for IMAGe syndrome (SF1, DAX-1, and STAR), and no mutations were found. Other cases of IMAGe syndrome are reviewed. © 2006 Wiley-Liss, Inc. | en_US |
dc.language | eng | en_US |
dc.publisher | John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jabout/33129/ProductInformation.html | en_US |
dc.relation.ispartof | American Journal of Medical Genetics, Part A | en_US |
dc.subject | Adrenal hypoplasia congenita | - |
dc.subject | Adrenal insufficiency | - |
dc.subject | Autosomal recessive | - |
dc.subject | Cytomegalic adrenal cells | - |
dc.subject.mesh | Adrenal Glands - Abnormalities | en_US |
dc.subject.mesh | Adrenal Insufficiency - Congenital - Diagnosis - Genetics | en_US |
dc.subject.mesh | Fatal Outcome | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Finger Phalanges - Abnormalities - Radiography | en_US |
dc.subject.mesh | Follow-Up Studies | en_US |
dc.subject.mesh | Genes, Recessive | en_US |
dc.subject.mesh | Genes, X-Linked | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Infant | en_US |
dc.subject.mesh | Metacarpal Bones - Abnormalities - Radiography | en_US |
dc.subject.mesh | Ribs - Abnormalities - Radiography | en_US |
dc.subject.mesh | Siblings | en_US |
dc.subject.mesh | Syndrome | en_US |
dc.subject.mesh | Ultrasonography, Prenatal | en_US |
dc.title | Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review | en_US |
dc.type | Article | en_US |
dc.identifier.email | Tan, TY:tanty@hku.hk | en_US |
dc.identifier.authority | Tan, TY=rp01380 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1002/ajmg.a.31365 | en_US |
dc.identifier.pmid | 16835919 | - |
dc.identifier.scopus | eid_2-s2.0-33746658040 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-33746658040&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 140 | en_US |
dc.identifier.issue | 16 | en_US |
dc.identifier.spage | 1778 | en_US |
dc.identifier.epage | 1784 | en_US |
dc.identifier.isi | WOS:000239405000010 | - |
dc.publisher.place | United States | en_US |
dc.identifier.scopusauthorid | Tan, TY=8567188100 | en_US |
dc.identifier.scopusauthorid | Jameson, JL=7102436615 | en_US |
dc.identifier.scopusauthorid | Campbell, PE=36824890300 | en_US |
dc.identifier.scopusauthorid | Ekert, PG=7004242081 | en_US |
dc.identifier.scopusauthorid | Zacharin, M=7003745883 | en_US |
dc.identifier.scopusauthorid | Savarirayan, R=7003566196 | en_US |
dc.identifier.issnl | 1552-4825 | - |