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. 29(3):123-126, July 2020. Abstract Abstract Favorite PDF Permissions Buy SDC
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. 29(3):127-131, July 2020. Abstract Abstract Favorite PDF Permissions Buy
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. 29(3):132-136, July 2020. Favorite PDF Permissions Buy
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. 29(3):137-140, July 2020. Favorite PDF Permissions Buy
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. 29(3):141-143, July 2020. Favorite PDF Permissions Buy
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. 29(3):144-147, July 2020. Favorite PDF Permissions Buy
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. 29(3):148-151, July 2020. Favorite PDF Permissions Buy
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. 29(3):152-154, July 2020. Favorite PDF Permissions Buy
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. 29(3):155-157, July 2020. Favorite PDF Permissions Buy
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. 29(3):158-160, July 2020. Favorite PDF Permissions Buy
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.; Amudhavalli, Shivarajan M. Less Clinical Dysmorphology. 29(3):161-164, July 2020. Favorite PDF Permissions Buy
Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations Osiak, Lucas; Saraiva, João G.; Mestre, Viviane de F.; More Osiak, Lucas; Saraiva, João G.; Mestre, Viviane de F.; Ferrari, Lígia S.L.; Paiva, Wagner J.M.; de Lima, Renata L.L.F.; Salles, Maria J.S. Less Clinical Dysmorphology. 29(3):165-166, July 2020. Favorite PDF Permissions Free
