Results 81 to 90 of about 168,874 (283)

Ectodermal dysplasia: A report of two cases

Journal of Craniomaxillofacial Research, 2017
Introduction: Ectodermal dysplasia (ED) is a group of syndromes and disorders in the human body characterized by structural anomalies in the ectoderm and often associated with hair, teeth and skin abnormalities.
Mozhgan Kazemian, Farnoosh Razmara, Nafiseh Ghadiri Moghadam   +2 more
doaj  

Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

Case Reports in Dentistry, 2012
Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands.
Sepideh Mokhtari, Saeedeh Mokhtari, Ali Lotfi   +2 more
doaj   +1 more source

Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up

Case Reports in Dentistry, 2020
Ectrodactyly-ectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactyly-ectodermal dysplasia and facial clefting of lip or palate or both along with some systemic manifestations. Although each defect that
Anamika Bharati, Saumya Navit, Suleman Abbas Khan, Seema Jabeen, Nishi Grover, Meenakshi Upadhyay   +5 more
doaj   +1 more source

Novel EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela [PDF]

, 2023
Francisco Cammarata‐Scalisi, Michele Callea, Ajay Kumar Chaudhary, Antonio Cárdenas Tadich, Maykol Araya Castillo, Antonino Morabito, Emanuele Bellacchio, Elisa Pisaneschi, Antonio Novelli, Colin E. Willoughby, Murali Dharan Bashyam   +10 more
openalex   +1 more source

Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination [PDF]

, 2015
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1:90,000 live births.
Aakash Pandita, Chetan Kumar, Deepak Sharma, Pradeep Sharma, Sanjay Bhalerao, Sweta Shastri   +5 more
core   +2 more sources

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Ectodermal dysplasia

Journal of Indian Academy of Oral Medicine and Radiology, 2009
Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an
Sonia Saggoo, Anita Munde, Manjula Hebbale, Manjiri Joshi   +3 more
doaj   +1 more source

A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

BMC Medical Genetics, 2017
BackgroundPure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs.
A. Khan, Noor Muhammad, A. Aziz, S. A. Khan, K. Shah, A. Nasir, Muzammil Ahmad Khan, Saadullah Khan   +7 more
semanticscholar   +1 more source

Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII [PDF]

, 2013
Since the sequencing of the Canis lupus familiaris genome the dog has become a powerful tool for scientists. Selective breeding has created more than 400 different breeds each representing genetic isolates with breed-specific morphological and behavioral
Hytönen, Marjo
core  

Arterial dysgenesis and limb defects : Clinical and experimental examples [PDF]

, 2017
Acknowledgements This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S.
Hootnick, David R., Vargesson, Neil
core   +1 more source