Results 191 to 200 of about 35,924 (294)

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

Biliary Reconstruction for Intrahepatic Bile Duct Strictures and Optimal Jejunal Limb Length in Congenital Biliary Dilation Surgery: A Literature Review and Consensus Statements From the AOB Consensus Meeting. [PDF]

Asian J Endosc Surg
Takeda M, Mori H, Idichi T, Tainaka T, Nakamura S, Miyake Y, Miyano G, Yamataka A, Kiya Y, Matsuura T, Abe T, Ohuchida K, Nakata K, Ohtsuka T, Ishibashi H, Koga H, Nagakawa Y, Tajiri T, Nakamura M, Kitagawa Y, Uchida H.   +20 more
europepmc   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Cronkhite-Canada syndrome presenting with chronic diarrhea: A case report. [PDF]

Medicine (Baltimore)
Wu S, Wu J, Wang Y.
europepmc   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Clinical-radiologic-pathologic characterization of diabetic mastopathy: an analysis of 21 cases. [PDF]

Front Endocrinol (Lausanne)
Chen J, Zhang C, Liu Z, Qi Z, Song L.
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

Vertebrobasilar dolichoectasia and deep sylvian territory hemorrhage: Any causality? One case report of young man. [PDF]

Radiol Case Rep
Haddadi Z, Benramdane H, Ziani H, Nasri S, Kamaoui I, Skiker I.   +5 more
europepmc   +1 more source

Immunoglobulin G4-related sclerosing cholecystitis presenting as gallbladder cancer: a case report [PDF]

, 2015
Ayaka Tsuboi, Emi Ota, Hideki Asakawa, Hideto Ito, Kazuhito Mita, Keiichi Fujino, Kodai Takahashi, Masatoshi Hashimoto, Sigeru Okamoto, Takashi Hayashi, Toshio Katsube   +10 more
core   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source