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NARA Subscribed1
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Springer Nature1
Journal
Human Genetics1
Publication Year
20231
Walid Fazeli results 1 · Newest (Page 1/1, per page 25)
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Author: Walid Fazeli ×Clear All Filters
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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorderNARA Subscribed
Human Genetics · 2023 · Vol. 142 · Issue 7 · Springer
Gianluca D’Onofrio; Andrea Accogli; Mariasavina Severino; Haluk Caliskan; Tomislav Kokotović; Antonela Blazekovic; Kristina Gotovac Jercic; Silvana Markovic; Tamara Zigman; Krnjak Goran; Nina Barišić; Vlasta Duranovic; Ana Ban; Fran Borovecki; Danijela Petković Ramadža; Ivo Barić; Walid Fazeli; Peter Herkenrath; Carla Marini; Roberta Vittorini; Vykuntaraju Gowda; Arjan Bouman; Clarissa Rocca; Issam Azmi Alkhawaja; Bibi Nazia Murtaza; Malik Mujaddad Ur Rehman; Chadi Al Alam; Gisele Nader; Maria Margherita Mancardi; Thea Giacomini; Siddharth Srivastava; Javeria Raza Alvi; Hoda Tomoum; Sara Matricardi; Michele Iacomino; Antonella Riva; Marcello Scala; Francesca Madia; Angela Pistorio; Vincenzo Salpietro; Carlo Minetti; Jean-Baptiste Rivière; Myriam Srour; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sonja Catherine Vernes; Federico Zara; Pasquale Striano; Vanja Nagy
Contactin-associated protein-like 2 ( CNTNAP2 ) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell–cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with “Pitt-Hopkins-like syndrome-1” (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- ( n = 2) and bi-allelic ( n = 20) CNTNAP2 va...
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