Coffin Lowry Syndrome Pedigree

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An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities | Journal of Human Genetics

Familial co-segregation of Coffin–Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father - ScienceDirect

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An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3 - Castelluccio - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library

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Brain Sciences | Free Full-Text | Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

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Pedigree of the family Symbols are as follows: Circle: Female; Squares:... | Download Scientific Diagram

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Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atyp

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PDF) Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father | Yves Lacassie - Academia.edu

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Brain Sciences | Free Full-Text | Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

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PDF) Case Report: Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran | Iranian Rehabilitation Journal (IRJ) - Academia.edu

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Castelluccio et al. 1 An unusual cause for Coffin-Lowry syndrome: three brothers with a novel microduplication in RPS6KA3 Valeri

Clinical features of a mother and daughter with Coffin-Lowry syndrome. | Download Scientific Diagram

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Brain Sciences | Free Full-Text | Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes

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Castelluccio et al. 1 An unusual cause for Coffin-Lowry syndrome: three brothers with a novel microduplication in RPS6KA3 Valeri

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3 - Castelluccio - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library

PDF) Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran

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Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atyp

Coffin‐Lowry syndrome: A 20‐year follow‐up and review of long‐term outcomes - Hunter - 2002 - American Journal of Medical Genetics - Wiley Online Library

Novel XK mutation in a McLeod patient diagnosed after heart transplant - ScienceDirect

Late-Onset Sensorineural Hearing Loss in Coffin-Lowry Syndrome | Semantic Scholar

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atyp

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Clinical features of a mother and daughter with Coffin-Lowry syndrome. | Download Scientific Diagram

An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3 - Castelluccio - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atyp

Postmortem findings in the Coffin-Lowry Syndrome - ScienceDirect

Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes

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Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes

Mutations in the RSK2(RPS6KA3) gene cause Coffin–Lowry syndrome and nonsyndromic X‐linked mental retardation - Field - 2006 - Clinical Genetics - Wiley Online Library

Four novel RSK2 mutations in females with Coffin–Lowry syndrome - ScienceDirect

Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes

Case Report: Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation - Rauch - 2006 - American Journal of Medical Genetics Part A - Wiley Online Library

Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes

Molecular mechanisms underlying hemophilia A phenotype in seven females - PAVLOVA - 2009 - Journal of Thrombosis and Haemostasis - Wiley Online Library

Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atyp