Results 171 to 180 of about 544,381 (313)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Vitiligo-associated protection against basal cell carcinoma: Clinical observations

JAAD Case Reports
Alex Rooker, MSc, Marcel W. Bekkenk, MD, PhD, Elisabeth H. Jaspars, MD, PhD, Rosalie M. Luiten, PhD, Walbert J. Bakker, PhD   +4 more
doaj   +1 more source

Evolving Congenital Hypertrophy of the Retinal Pigment Epithelium in a Pediatric Patient. [PDF]

J Vitreoretin Dis
Pan S, Lim J, Mai D, Pirouz A, Adrean SD.   +4 more
europepmc   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Sustainable Natural Lake Pigments from <i>Caesalpinia sappan</i>: Improving Stability through Inorganic Support Morphologies for Colored PLA Packaging Films. [PDF]

ACS Omega
Girdthep S, Yodsin N, Phonprasert J, Suwanchawalit C, Swanglap P.   +4 more
europepmc   +1 more source

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Spectral sensitivity and color discrimination of Euxesta eluta and Chaetopsis massyla (Diptera: Ulidiidae). [PDF]

PLoS One
Allan SA.
europepmc   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Tattoos causing local and even generalized lymphadenopathies including sarcoidosis. [PDF]

Eur J Microbiol Immunol (Bp)
Jacobi MM, Bereswill S, Heimesaat MM.
europepmc   +1 more source

Pigmentation.? Pellagra [PDF]

Proceedings of the Royal Society of Medicine, 1945
openaire   +2 more sources