scholarly journals Cole-Carpenter Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Carpenter Syndrome

Carpenter Syndrome (MIM 201000)

2012 ◽  
pp. 718-720
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Carpenter Syndrome

Chapter 161 covers Carpenter syndrome (MIM 201000), including major clinical findings, radiographic features, and differential diagnoses.

scholarly journals Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense‐mediated mRNA decay

2011 ◽  
Vol 32 (4) ◽  
Author(s):  
Dagan Jenkins ◽  
Gareth Baynam ◽  
Luc De Catte ◽  
Nursel Elcioglu ◽  
Michael T. Gabbett ◽  
...  
Keyword(s):  
Mrna Decay ◽  
Mutation Spectrum ◽  
Carpenter Syndrome ◽  
Nonsense Mediated Mrna Decay

Cole-Carpenter syndrome in a patient from Thailand

2018 ◽  
Vol 176 (8) ◽  
pp. 1706-1710 ◽  
Author(s):  
Thantrira Porntaveetus ◽  
Thanakorn Theerapanon ◽  
Chalurmpon Srichomthong ◽  
Vorasuk Shotelersuk
Keyword(s):  
Carpenter Syndrome

Carpenter syndrome with normal intelligence and precocious growth

1981 ◽  
Vol 57 (1-2) ◽  
pp. 43-49 ◽  
Author(s):  
J. White ◽  
D. B. Boldt ◽  
D. J. David ◽  
L. Sheffield ◽  
D. A. Simpson
Keyword(s):  
Normal Intelligence ◽  
Carpenter Syndrome

Prenatal diagnosis of Carpenter syndrome: Looking beyond craniosynostosis and polysyndactyly

2014 ◽  
Vol 164 (3) ◽  
pp. 820-823 ◽  
Author(s):  
Anna S. Victorine ◽  
Jennifer Weida ◽  
Karrie A. Hines ◽  
Barrett Robinson ◽  
Wilfredo Torres-Martinez ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Carpenter Syndrome

Refined gene localization for the Miles-Carpenter syndrome (MCS)

1999 ◽  
Vol 85 (3) ◽  
pp. 221-222 ◽  
Author(s):  
Darci Tackels ◽  
Charles E. Schwartz ◽  
Nancy J. Carpenter ◽  
Judith H. Miles
Keyword(s):  
Gene Localization ◽  
Carpenter Syndrome
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