GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)-Reference-Cited by-同舟云学术

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GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)

Published:2013-10-03 Issue:11 Volume:161 Page:2756-2761
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mazzanti Laura¹,Tamburrino Federica¹,Scarano Emanuela¹,Perri Annamaria¹,Vestrucci Benedetta¹,Guidetti Monica¹,Rossi Cesare²,Tartaglia Marco³

Affiliation:

1. Pediatric Endocrinology and Rare Diseases, Department of Pediatrics; S.Orsola-Malpighi University Hospital - University of Bologna; Bologna Italy

2. Department of Medical Genetics; S.Orsola-Malpighi University Hospital, University of Bologna; Bologna Italy

3. Department of Hematology, Oncology and Molecular Medicine; Istituto Superiore di Sanità; Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference21 articles.

1. PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan Syndrome;Binder;J Clin Endocrinol Metab,2005

2. Italian cross-sectional growth charts for height, weight and BMI (2 to 20 yr);Cacciari;J Endocrinol Invest,2006

3. Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestation;Capalbo;Am J Med Genet Part A,2012a

4. Heterogeneity in two patients with Noonanlike Syndrome associated with the same SHOC2 mutation;Capalbo;Ital J Pediatr,2012b

5. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair;Cordeddu;Nat Genet,2009

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1. Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant;American Journal of Case Reports;2023-11-21

2. Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes;Frontiers in Endocrinology;2023-10-27

3. Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment;Journal of Clinical Medicine;2023-07-29

4. Case report: A de novo RASopathy-causing SHOC2 variant in a Chinese girl with noonan syndrome-like with loose anagen hair;Frontiers in Genetics;2022-12-09

5. Endocrinological manifestations in RASopathies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-11-19

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