Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome

Clinical and Experimental Dermatology ◽

10.1046/j.1365-2230.2000.00719.x ◽

2000 ◽

Vol 25 (8) ◽

pp. 611-614 ◽

Author(s):

V. A. Hill ◽

W. A. D. Griffiths ◽

M. G . Kerr-Muir ◽

S. Hardman-Lea

Keyword(s):

Noonan Syndrome ◽

Ocular Albinism ◽

Congenital Ichthyosiform Erythroderma

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A Case of Nonbullous Congenital Ichthyosiform Erythroderma Caused by Compound Heterozygous Mutations in TGM1

Nishi Nihon Hifuka ◽

10.2336/nishinihonhifu.81.103 ◽

2019 ◽

Vol 81 (2) ◽

pp. 103-105

Author(s):

Hitomi MARUSHIMA ◽

Yuka MIYOSHI ◽

Akemi TAKEMOTO ◽

Junji NAKANO

Keyword(s):

Compound Heterozygous ◽

Compound Heterozygous Mutations ◽

Congenital Ichthyosiform Erythroderma

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Rare NRAS mutation causing Noonan syndrome type 6 in a Saudi patient: case report

International Journal of Medicine in Developing Countries ◽

10.24911/ijmdc.51-1608055911 ◽

2021 ◽

pp. 413-415

Author(s):

Sara Alomar ◽

Anfal Alsultan ◽

Halah AlMuhaidib ◽

Sarah Aldhahri ◽

Dalal Bubshait

Keyword(s):

Case Report ◽

Noonan Syndrome ◽

Syndrome Type ◽

Patient Case ◽

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THE CLINICAL COURSE AND CARDIAC CHARACTERISTICS OF CHILDREN WITH NOONAN SYNDROME AND HYPERTROPHIC CARDIOMYOPATHY DIFFER FROM CHILDREN WITH NON-SYNDROMIC FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

10.26226/morressier.57d034cfd462b80292383272 ◽

2016 ◽

Author(s):

Emanuel KALTENECKER

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Noonan Syndrome ◽

Clinical Course ◽

Familial Hypertrophic Cardiomyopathy

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Pediatric Acute Onset Neuropsychiatric Syndrome Associated with Epstein-barr Infection in Child with Noonan Syndrome

10.26226/morressier.58d4fec5d462b8028d892233 ◽

2017 ◽

Author(s):

Giuseppe Pietro Tisi

Keyword(s):

Noonan Syndrome ◽

Acute Onset ◽

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Faculty Opinions recommendation of Germline KRAS mutations cause Noonan syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1031214.368837 ◽

2006 ◽

Author(s):

Alfred Wittinghofer

Keyword(s):

Noonan Syndrome ◽

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Faculty Opinions recommendation of Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1089084.542244 ◽

2007 ◽

Author(s):

Deborah Morrison

Keyword(s):

Noonan Syndrome ◽

Gain Of Function

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Congenital Ichthyosiform Erythroderma: Particulate Staining Pattern of TGK

The Journal of Dermatology ◽

10.1111/j.1346-8138.1999.tb02094.x ◽

1999 ◽

Vol 26 (12) ◽

pp. 791-796

Author(s):

Ken Hashimoto ◽

Kazuaki Tanaka ◽

Indira Misra ◽

Tor Shwayder ◽

Ali Moiin

Keyword(s):

Staining Pattern ◽

Congenital Ichthyosiform Erythroderma

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Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

European Journal of Human Genetics ◽

10.1038/s41431-021-00809-w ◽

2021 ◽

Author(s):

Abdullah Aamir ◽

Helen J. Kuht ◽

Karen Grønskov ◽

Brian P. Brooks ◽

Mervyn G. Thomas

Keyword(s):

Clinical Utility ◽

Ocular Albinism

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Pharmacological management of an aneurysmal bone cyst in Noonan syndrome

Oral Surgery ◽

10.1111/ors.12615 ◽

2021 ◽

Author(s):

Sarah Jadun ◽

Kiran Beneng ◽

Jerry Kwok ◽

Chris Sproat ◽

Vinod Patel

Keyword(s):

Aneurysmal Bone Cyst ◽

Noonan Syndrome ◽

Bone Cyst ◽

Pharmacological Management

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Noonan Syndrome With Multiple Lentigines: Subtle Key Skin Clues to the Diagnosis

Actas Dermo-Sifiliográficas (English Edition) ◽

10.1016/j.adengl.2021.07.021 ◽

2021 ◽

Author(s):

B. Lozano-Masdemont ◽

J. Rojas-Calva ◽

M.T. Darnaude-Ortiz

Keyword(s):

Noonan Syndrome ◽

Multiple Lentigines

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