Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

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Last updated 02 junho 2024
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
buccal mucosa - List of Frontiers' open access articles
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
PDF) Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
buccal mucosa - List of Frontiers' open access articles
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
Linhuan Huang's research works Sun Yat-Sen University, Guangzhou (SYSU) and other places
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
Frontiers Syndromic forms of congenital hyperinsulinism
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
Neurodevelopmental Disorder: Most Up-to-Date Encyclopedia, News & Reviews
Frontiers  Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP  Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a  Chinese Family
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes

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