Importance of genetic testing in global health during the evaluation of familial microcephaly

A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is th...

Descripción completa

Detalles Bibliográficos
Autores principales: Molinero, Isaac, Broman‐Fulks, Jordan, Lyons, Michael J., Matheus, Maria Gisele, Chaubey, Alka, DuPont, Barbara R., Friez, Michael J., Skinner, Steve A., Holden, Kenton R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054472/
https://www.ncbi.nlm.nih.gov/pubmed/27761248
http://dx.doi.org/10.1002/ccr3.669
_version_ 1782458606990393344
author Molinero, Isaac
Broman‐Fulks, Jordan
Lyons, Michael J.
Matheus, Maria Gisele
Chaubey, Alka
DuPont, Barbara R.
Friez, Michael J.
Skinner, Steve A.
Holden, Kenton R.
author_facet Molinero, Isaac
Broman‐Fulks, Jordan
Lyons, Michael J.
Matheus, Maria Gisele
Chaubey, Alka
DuPont, Barbara R.
Friez, Michael J.
Skinner, Steve A.
Holden, Kenton R.
author_sort Molinero, Isaac
collection PubMed
description A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is the same for all affected members.
format Online
Article
Text
id pubmed-5054472
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-50544722016-10-19 Importance of genetic testing in global health during the evaluation of familial microcephaly Molinero, Isaac Broman‐Fulks, Jordan Lyons, Michael J. Matheus, Maria Gisele Chaubey, Alka DuPont, Barbara R. Friez, Michael J. Skinner, Steve A. Holden, Kenton R. Clin Case Rep Case Reports A focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is the same for all affected members. John Wiley and Sons Inc. 2016-08-26 /pmc/articles/PMC5054472/ /pubmed/27761248 http://dx.doi.org/10.1002/ccr3.669 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Molinero, Isaac
Broman‐Fulks, Jordan
Lyons, Michael J.
Matheus, Maria Gisele
Chaubey, Alka
DuPont, Barbara R.
Friez, Michael J.
Skinner, Steve A.
Holden, Kenton R.
Importance of genetic testing in global health during the evaluation of familial microcephaly
title Importance of genetic testing in global health during the evaluation of familial microcephaly
title_full Importance of genetic testing in global health during the evaluation of familial microcephaly
title_fullStr Importance of genetic testing in global health during the evaluation of familial microcephaly
title_full_unstemmed Importance of genetic testing in global health during the evaluation of familial microcephaly
title_short Importance of genetic testing in global health during the evaluation of familial microcephaly
title_sort importance of genetic testing in global health during the evaluation of familial microcephaly
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5054472/
https://www.ncbi.nlm.nih.gov/pubmed/27761248
http://dx.doi.org/10.1002/ccr3.669
work_keys_str_mv AT molineroisaac importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly
AT bromanfulksjordan importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly
AT lyonsmichaelj importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly
AT matheusmariagisele importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly
AT chaubeyalka importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly
AT dupontbarbarar importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly
AT friezmichaelj importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly
AT skinnerstevea importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly
AT holdenkentonr importanceofgenetictestinginglobalhealthduringtheevaluationoffamilialmicrocephaly

Ejemplares similares