Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature Upadhyai, Priyanka; Amiri, Eram Fatima; Guleria, Vishal Singh; More Upadhyai, Priyanka; Amiri, Eram Fatima; Guleria, Vishal Singh; Bielas, Stephanie L.; Girisha, Katta Mohan; Shukla, Anju Less Clinical Dysmorphology. ., Post Author Corrections: May 25, 2020 Abstract Abstract Favorites PDF Get Content & Permissions Buy PAP
Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families Radhakrishnan, Periyasamy; Jacob, Prince; Nayak, Shalini S.; More Radhakrishnan, Periyasamy; Jacob, Prince; Nayak, Shalini S.; Gowrishankar, Kalpana; Prakash Soni, Jai; Shukla, Anju; Girisha, Katta M. Less Clinical Dysmorphology. ., Post Author Corrections: April 08, 2020 Abstract Abstract Favorites PDF Get Content & Permissions Buy SDC PAP
Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion Schierz, Ingrid Anne Mandy; Serra, Gregorio; Antona, Vincenzo; More Schierz, Ingrid Anne Mandy; Serra, Gregorio; Antona, Vincenzo; Persico, Ivana; Corsello, Giovanni; Piro, Ettore Less Clinical Dysmorphology. ., Post Author Corrections: May 19, 2020 Favorites PDF Get Content & Permissions Buy PAP
Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis Apperley, Louise J.; Richmond, Stacey; Ramakrishnan, Renuka; More Apperley, Louise J.; Richmond, Stacey; Ramakrishnan, Renuka; Balasubramanian, Meena Less Clinical Dysmorphology. ., Post Author Corrections: April 08, 2020 Favorites PDF Get Content & Permissions Buy PAP
Autosomal recessive Robinow syndrome with novel ROR2 variants: distinct cases exhibiting the clinical variability Kirat, Emre; Mutlu Albayrak, Hatice; Sahinoglu, Bahtiyar; More Kirat, Emre; Mutlu Albayrak, Hatice; Sahinoglu, Bahtiyar; Gurler, Abdullah Ihsan; Karaer, Kadri Less Clinical Dysmorphology. ., Post Author Corrections: March 16, 2020 Favorites PDF Get Content & Permissions Buy PAP
A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation Bhatia, Sameer Kumar; Arora, Veronica; Verma, Ishwar Chander Bhatia, Sameer Kumar; Arora, Veronica; Verma, Ishwar Chander Less Clinical Dysmorphology. ., Post Author Corrections: March 09, 2020 Favorites PDF Get Content & Permissions Buy PAP
First report of de novo 12q14.2-q23.3 duplication: patient with multiple congenital anomalies, neurodevelopmental delay, and a connective tissue disorder-like phenotype including cutis laxa Khazanchi, Rohan; Yetman, Anji T.; Sanmann, Jennifer N.; More Khazanchi, Rohan; Yetman, Anji T.; Sanmann, Jennifer N.; Starr, Lois J. Less Clinical Dysmorphology. ., Post Author Corrections: March 04, 2020 Favorites PDF Get Content & Permissions Buy PAP
A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome Guzoglu, Nilufer; Aslan, Mustafa K.; Gunay, Yasemin D.; More Guzoglu, Nilufer; Aslan, Mustafa K.; Gunay, Yasemin D.; Atasoy, Pinar; Ceylaner, Serdar; Aliefendioglu, Didem Less Clinical Dysmorphology. ., Post Author Corrections: February 17, 2020 Favorites PDF Get Content & Permissions Buy PAP
A novel missense variant in CHD7, a rare cause of CHARGE syndrome Joslyn, Peter; Meddaugh, Hannah; Torres, Jairo; More Joslyn, Peter; Meddaugh, Hannah; Torres, Jairo; Patrick-Esteve, Jessica; Olister, Staci; Mumphrey, Christy; Zambrano, Regina Less Clinical Dysmorphology. ., Post Author Corrections: January 09, 2020 Favorites PDF Get Content & Permissions Buy PAP
A report of gonadal mosaicism in DHX30-related neurodevelopmental disorder Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; More Cross, Laura A.; McWalter, Kirsty; Keller-Ramey, Jennifer; Henderson, Lindsay B.; M. Amudhavalli, Shivarajan Less Clinical Dysmorphology. ., Post Author Corrections: January 09, 2020 Favorites PDF Get Content & Permissions Buy PAP
Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene Kirola, Laxmi; Edgar-Zarate, Courtney L.; Rook, Brita; More Kirola, Laxmi; Edgar-Zarate, Courtney L.; Rook, Brita; Rowell, Amy C.; Wood, Tim; Uchimura, Kenji; Schwartz, Charles E.; Zarate, Yuri A. Less Clinical Dysmorphology. ., Post Author Corrections: December 13, 2019 Favorites PDF Get Content & Permissions Buy PAP
