Results 121 to 130 of about 5,312 (215)

Autosomal-dominant hypotrichosis with woolly hair: Novel gene locus on chromosome 4q35.1-q35.2

, 2019
Annika E. Schlaweck, Rachid Tazi‐Ahnini, F. Buket Basmanav, Javed Mohungoo, Sandra Pasternack‐Ziach, Manuel Mattheisen, Ana‐Maria Oprişoreanu, Aytaj Humbatova, Sabrina Wolf, Andrew G. Messenger, Regina C. Betz   +10 more
openalex   +2 more sources

Desmosomal-Type Acantholysis-A New Histologic Pattern Related to Mutations of Genes for Desmosomal Proteins. [PDF]

Dermatopathology (Basel)
Metze D, Süßmuth K, Metze C, Oji V, Traupe H.   +4 more
europepmc   +1 more source

Clinical Spectrum and Genetic Variability in Ectodermal Dysplasia-Skin Fragility Syndrome. [PDF]

Indian Dermatol Online J
Gupta M, Sharma A, Chatterjee D, Vinay K.   +3 more
europepmc   +1 more source

Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies

, 2021
Masashi Akiyama
openalex   +2 more sources

A classical variant of ectodermal dysplasia: a case report. [PDF]

Pan Afr Med J
Jawade S, Wankhede P, Sharma R, Munjewar P, More V.   +4 more
europepmc   +1 more source

Importance of Different Parameters for Monitoring Dogs with <i>Leishmania infantum</i> Infections in a Non-Endemic Country. [PDF]

Pathogens
Kaempfle M, Dorsch R, Zablotski Y, Hartmann K, Bergmann M.   +4 more
europepmc   +1 more source

Hypohidrotic ectodermal dysplasia syndrome in a Sudanese patient: a case report. [PDF]

Pan Afr Med J
Mukhtar MA, Amine AAA, Muctar SA, Ibrahim ME, Mohamed HS.   +4 more
europepmc   +1 more source

The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis

, 1981
G Michaëlsson, Erik Olsson, Per Westermark   +2 more
openalex   +2 more sources

Early clinical diagnosis of congenital insensitivity to pain with anhidrosis in an infant: a case report. [PDF]

Front Pediatr
Tang Z, Xu F, Zhang P, Zhang J, Kang X, Zhao H.   +5 more
europepmc   +1 more source

Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase [PDF]

, 2007
Lina Basel‐Vanagaite, Revital Attia, Akemi Ishida‐Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik‐Chor, Margarita Indelman, Alex Zvulunov, Shirley Saban, Nurit Magal, Eli Sprecher, Mordechai Shohat   +12 more
openalex   +1 more source