Severe congenital neutropenia with neurological impairment due to a homozygousVPS45p.E238K mutation: A case report suggesting a genotype-phenotype correlation

2015 ◽  
Vol 167 (12) ◽  
pp. 3214-3218 ◽  
Author(s):  
Ilse Meerschaut ◽  
Victoria Bordon ◽  
Catharina Dhooge ◽  
Patricia Delbeke ◽  
Arnaud V. Vanlander ◽  
...  
Keyword(s):  
Case Report ◽  
Neurological Impairment ◽  
Severe Congenital Neutropenia ◽  
Phenotype Correlation ◽  
Congenital Neutropenia ◽  
Genotype Phenotype Correlation

Response: ELA2 genotype-phenotype correlation to be expected in patients with severe congenital neutropenia

Blood ◽  
2007 ◽  
Vol 110 (7) ◽  
pp. 2773-2774
Author(s):  
Raffaele Badolato ◽  
Marta Donini ◽  
Gianfranco Savoldi ◽  
Stefano Dusi
Keyword(s):  
Severe Congenital Neutropenia ◽  
Phenotype Correlation ◽  
Congenital Neutropenia ◽  
Genotype Phenotype Correlation

scholarly journals Genotype–phenotype correlation of LMNA variants involving the Arg541 residue: a case report with multimodality imaging and literature review

2020 ◽  
Vol 7 (5) ◽  
pp. 3169-3173
Author(s):  
Andrea Di Marco ◽  
María Ruiz‐Cueto ◽  
Joel Salazar‐Mendiguchía ◽  
Eduard Claver ◽  
Gerard Roura ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Multimodality Imaging ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Expanding the phenotype of DST -related disorder: A case report suggesting a genotype/phenotype correlation

2017 ◽  
Vol 173 (10) ◽  
pp. 2743-2746 ◽  
Author(s):  
Gerarda Cappuccio ◽  
Michele Pinelli ◽  
Annalaura Torella ◽  
Marianna Alagia ◽  
Renata Auricchio ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotype Correlation ◽  
Related Disorder ◽  
Genotype Phenotype Correlation

Ulerythema Ophryogenes, A Rarely Reported Cutaneous Manifestation of Noonan Syndrome: Case Report and Review of the Literature

2013 ◽  
Vol 17 (3) ◽  
pp. 212-218 ◽  
Author(s):  
Kayi Li ◽  
Mary Ann Thomas ◽  
Richard M. Haber
Keyword(s):  
Case Report ◽  
Noonan Syndrome ◽  
Cutaneous Manifestation ◽  
Review Of The Literature ◽  
Phenotype Correlation ◽  
Genetic Condition ◽  
Genotype Phenotype Correlation

Background: Ulerythema ophryogenes (also known as keratosis pilaris atrophicans faciei) is a rarely reported cutaneous manifestation of Noonan syndrome. Objective: Recognizing ulerythema ophryogenes as a cutaneous association in Noonan syndrome may aid in the diagnosis of this relatively common genetic condition. Methods: We present a case of a patient with Noonan syndrome and ulerythema ophryogenes associated with a SOS1 mutation and review the literature on this association. Results: To the best of our knowledge, this is the second case of Noonan syndrome proven to be due to an SOS1 mutation in which ulerythema ophryogenes was clinically recognized and specifically diagnosed. Conclusions: The presence of ulerythema ophryogenes in a patient with Noonan syndrome increases the likelihood of a SOS1 mutation. Further reports by dermatologists and medical geneticists documenting ulerythema ophryogenes and not just descriptions of sparse or absent eyebrows will help support this genotype-phenotype correlation.

scholarly journals Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation

2019 ◽  
Vol 182 (1) ◽  
pp. 268-268 ◽  
Author(s):  
G. Cappuccio ◽  
M. Pinelli ◽  
A. Torella ◽  
M. Alagia ◽  
R. Auricchio ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotype Correlation ◽  
Related Disorder ◽  
Genotype Phenotype Correlation
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