SHANK3 variant as a cause of nonsyndromal autism in an 11-year-old boy and a review of published literature Kanani, Farah; Study, DDD; Balasubramanian, Meena Kanani, Farah; Study, DDD; Balasubramanian, Meena Less Clinical Dysmorphology. 27(4):113-115, October 2018. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Familial impairment of vocal cord mobility in childhood with clubfoot Shaw, Rebecca; Dias, Cristina; Ludemann, Jeffrey; More Shaw, Rebecca; Dias, Cristina; Ludemann, Jeffrey; Rupps, Rosemarie; Tsai, Vance; Lehman, Anna Less Clinical Dysmorphology. 27(4):116-121, October 2018. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
A case of diencephalic syndrome presenting with isolated lipodystrophy McDermott, John H.; Harris, Julie; Fédée, Joanne; More McDermott, John H.; Harris, Julie; Fédée, Joanne; Skae, Mars; Semple, Robert; Douzgou, Sofia Less Clinical Dysmorphology. 27(4):122-125, October 2018. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Facial profile and additional features in fetuses with trisomy 21 Radhakrishnan, Periyasamy; Nayak, Shalini S.; Shukla, Anju; More Radhakrishnan, Periyasamy; Nayak, Shalini S.; Shukla, Anju; Girisha, Katta M. Less Clinical Dysmorphology. 27(4):126-129, October 2018. Abstract Abstract Favorites PDF Get Content & Permissions Abstract:
Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D Rai, Archana; Puri, Ratna D.; Phadke, Shubha R. Rai, Archana; Puri, Ratna D.; Phadke, Shubha R. Less Clinical Dysmorphology. 27(4):130-134, October 2018. Favorites PDF Get Content & Permissions
Robinow syndrome: a diagnosis at the fingertips Murali, Chaya N.; Keena, Beth; Zackai, Elaine H. Murali, Chaya N.; Keena, Beth; Zackai, Elaine H. Less Clinical Dysmorphology. 27(4):135-137, October 2018. Favorites PDF Get Content & Permissions
Case report of two siblings with a novel homozygous mutation in COL7A1 leads to recessive dystrophic epidermolysis bullosa: which type? Gumus, Evren Gumus, Evren Less Clinical Dysmorphology. 27(4):138-141, October 2018. Favorites PDF Get Content & Permissions
A large interstitial 11q deletion with isolated mild intellectual disability: review of the literature for genotype–phenotype correlation Lallar, Meenakshi; Srivastava, Priyanka; Phadke, Shubha R. Lallar, Meenakshi; Srivastava, Priyanka; Phadke, Shubha R. Less Clinical Dysmorphology. 27(4):142-144, October 2018. Favorites PDF Get Content & Permissions
A rare mutation in the EPG5 gene causes Vici syndrome Demiral, Emine; Sen, Askin; Esener, Zeynep; More Demiral, Emine; Sen, Askin; Esener, Zeynep; Ceylaner, Serdar; Tekedereli, Ibrahim Less Clinical Dysmorphology. 27(4):145-147, October 2018. Favorites PDF Get Content & Permissions
Mutation of PACS1: the milder end of the spectrum Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; More Martinez-Monseny, Antonio; Bolasell, Mercè; Arjona, Cesar; Martorell, Loreto; Yubero, Delia; Arsmtrong, Judith; Maynou, Joan; Fernandez, Guerau; del Carmen Salgado, Maria; Palau, Francesc; Serrano, Mercedes Less Clinical Dysmorphology. 27(4):148-150, October 2018. Favorites PDF Get Content & Permissions
A case report of a suspected dual diagnosis: 22q11.2 deletion syndrome and X-linked chondrodysplasia punctata Brimble, Elise; Pacione, Michelle; Farrelly, Ellyn; More Brimble, Elise; Pacione, Michelle; Farrelly, Ellyn; Stevenson, David A.; Ruzhnikov, Maura R.Z. Less Clinical Dysmorphology. 27(4):151-153, October 2018. Favorites PDF Get Content & Permissions
