Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

被引：0

作者：

Nehla Ghedira

Arnaud Lagarde

Karim Ben Ameur

Sahar Elouej

Rania Sakka

Emna Kerkeni

Fatma-Zohra Chioukh

Sylviane Olschwang

Jean-Pierre Desvignes

Sonia Abdelhak

Valerie Delague

Nicolas Lévy

Kamel Monastiri

Annachiara De Sandre-Giovannoli

机构：

[1] University of Monastir,Research Unit 01/UR/08

[2] Aix Marseille University,14, Faculty of Medicine of Monastir

[3] INSERM,Department of Intensive Care and Neonatal Medicine

[4] GMGF,Departement of Medical Genetics

[5] Fattouma Bourguiba University Hospital,undefined

[6] Childrens’ Hospital La Timone,undefined

[7] Groupe Ramsay Générale de Santé,undefined

[8] Hôpital Clairval,undefined

[9] Institut Pasteur de Tunis,undefined

[10] Laboratoire de Genomique Biomedicale et Oncogenetique LR11IPT05,undefined

来源：

BMC Pediatrics | / 18卷

关键词：

Noonan syndrome; RAS-MAPK pathway; RAF1; Dysmorphism; Incontinentia Pigmenti; X-linked disorder; Comorbidity; Next generation sequencing;

D O I：

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学科分类号：

摘要：

引用

共 30 条

[21] Noonan syndrome associated with anomalous left coronary artery from the pulmonary artery in a patient with the rare RAF1 mutation: A case report and review of literature
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[22] Primary Mixed Glioneuronal Tumor of the Central Nervous System in a Patient With Noonan Syndrome A Case Report and Review of the Literature
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[23] Successful pregnancy in a Noonan syndrome patient after 3 unsuccessful pregnancies from severe fetal hydrops -: A case report
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Beke, A
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[24] Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1–58 deletion: a case report
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[25] Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report
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[27] Trio Clinical Exome Sequencing in a Patient With Multicentric Carpotarsal Osteolysis Syndrome: First Case Report in the Balkans
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[28] General anesthesia with a transcutaneous pacemaker for a Noonan syndrome patient with advanced atrioventricular block discovered in the remote period after open-heart surgery: a case report
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[29] Genomic and Clinical Correlates of Adrenocortical Carcinoma in an Adult Patient with Li-Fraumeni Syndrome: A Case Report
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[30] Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report
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