Results 221 to 230 of about 22,853,154 (251)

Clinical Characterization of Skin Findings on the Hands in Proteus Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Background Proteus syndrome is a progressive asymmetric overgrowth disorder caused by mosaic activating variants in AKT1. It most frequently affects the skin, soft tissues, bones, and central nervous system and increases the risk for certain tumors and venous thromboembolism. A hallmark feature is the progressive plantar cerebriform connective
Samantha D. Verling, Nicole Gaidici, Leslie G. Biesecker, Thomas N. Darling, Christopher A. Ours   +4 more
wiley   +1 more source

A Mechanistic Review of Environmental Stressor to Decode Their Effect on Congenital Malformations: A Developmental Toxicity. [PDF]

J Biochem Mol Toxicol
Shukla AK, Mahajan R, Tyagi AK, Swaroop K.   +3 more
europepmc   +1 more source

Editorial: Neuroanatomical considerations and advances in approaches for cerebral arteriovenous malformations. [PDF]

Front Neurol
Chaddad-Neto F, Wuo-Silva R, Ahumada-Vizcaíno JC, Jong-A-Liem GS, Jiménez LAC.   +4 more
europepmc   +1 more source

Isolated absent pulmonary valve syndrome with intact ventricular septum in a child with CHARGE syndrome: a rare case report and review of the literature. [PDF]

Front Cardiovasc Med
Alqashami A, Alkhalaf M, Al Qahtani F.
europepmc   +1 more source

Brainstem Disconnection Syndrome in a Patient With Respiratory Failure and Failed Weaning From Oxygen: A Case Report. [PDF]

Case Rep Radiol
Alshehri A, Ashi M, Sulaiman S, Alzahrani A.   +3 more
europepmc   +1 more source

KAT5: the epigenetic regulator of central nervous system diseases. [PDF]

Front Mol Neurosci
Xin X, Wu L, Liu M, Liu T, Yuan Z, Zhang L, Duan T, Zhang L, Zhu X.   +8 more
europepmc   +1 more source

Pediatric Area Postrema Cavernoma: Clinical Presentation With Hiccups and Vomiting. [PDF]

Cureus
Kaake A.
europepmc   +1 more source

Pediatric Familial Cerebral Cavernous Malformation Associated With a Novel KRIT1 Initiation-Region Frameshift Variant. [PDF]

Mol Genet Genomic Med
Yayıcı Köken Ö, Yanartaş MS, Aygün H, Ceylan AC, Karaali K, Kazan MS.   +5 more
europepmc   +1 more source