Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation-Reference-Cited by-同舟云学术

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation

Published:2016-03-23 Issue:6 Volume:170 Page:1471-1478
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Leoni Chiara¹,Gordon Christopher T.²,Marca Giacomo Della³,Giorgio Valentina¹,Onesimo Roberta¹,Perrino Francesca¹,Cianfoni Alessandro⁴,Cerchiari Antonella⁵,Amiel Jeanne²⁶,Zampino Giuseppe¹

Affiliation:

1. Department of Pediatrics; Center for Rare Diseases; Catholic University; Rome Italy

2. INSERM UMR 1163 and Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine; Paris France

3. Department of Neurosciences; Catholic University; Rome Italy

4. Neuroradiology-Neurocenter Southern Switzerland; Lugano Switzerland

5. Department of Neuroscience and Neurorehabilitation; Speech Language Pathology Unit; Bambino Gesù Children's Hospital; Rome Italy

6. APHP; Hôpital Necker-Enfants Malades; Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37625/fullpdf

Reference17 articles.

1. Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies;Clouthier;Am J Med Genet C Semin Med Genet,2013

2. The play is still being written on opening day: Postnatal maturation of enteric neurons may provide an opening for early life mischief;Gershon;J Physiol,2012

3. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome;Gordon;J Med Genet,2013a

4. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears;Gordon;Am J Hum Genet,2013b

5. Auriculo-condylar syndrome: Further evidence for a new disorder;Guion-Almeida;Am J Med Genet,1999

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