Results 91 to 100 of about 89,824 (342)

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Median cleft of lower lip with ankyloglossia: A case report

Oral and Maxillofacial Surgery Cases, 2019
Median cleft of the lower lip & mandible (Tessier no. 30 facial cleft) is an uncommon condition. This cleft varies in severity, in mildest form it may present as submucosal notching of lower lip & in most severe form it may involve lower lip, tongue ...
Jaideep Singh Chauhan, Sarwpriya Sharma
doaj  

Median alveolar cleft and palatal mass without a median upper cleft lip [PDF]

, 2019
Median cleft is rare among facial clefts, including bilateral and unilateral clefts. Median upper cleft lip and median alveolar cleft correspond to Type 14 and Type 0, respectively, in Tessier's classification system.
Kawai, Katsuya, Kishimoto, Hideaki, Matsuura, Yoshitaka, Morimoto, Naoki, Noda, Kazuo   +4 more
core   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Detection of Single Nucleotide Polymorphism Rs2013162 of IRF6 Gene in Patient with Cleft Lip and Palate [PDF]

, 2019
Background: Cleft lip and palate are congenital disorders which induce affected individuals medically, socially and psychologically. The objective of this study was to investigate the association of Single Nucleotide Polymorphism(SNP); rs2013162 of ...
Shehzad, H. (Husnain), Shehzad, O. (Osheen)   +1 more
core   +3 more sources

The management of children born with cleft lip and palate [PDF]

, 1996
Although cleft lip and palate is a single anomaly, its consequences affect several systems and functions of the child as well as the social and psychological problems that impact on the child and parents.
Cheung, LK, King, NM, Samman, N, So, LLY, Tideman, H, Whitehill, TL   +5 more
core  

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Redirecting the Peptide Cleavage Causes Protease Inactivation

Angewandte Chemie International Edition, Accepted Article.
Cysteine and serine proteases cleave peptides through covalent catalysis by generating a transient adduct with the N‐terminal part of the substrate after releasing its C‐terminal part. We demonstrate the unique redirection of this event leading to strong enzyme inactivation.
Michael Gütschow, Christian Breuer, Jim Küppers, Anna-Christina Schulz-Fincke, Anna Heilos, Carina Lemke, Petra Spiwokowá, Janina Schmitz, Laura Cremer, Marta Frigolé-Vivas, Michael Lülsdorff, Matthias D. Mertens, Filip Wichterle, Miloš Apeltauer, Martin Horn, Erik Gilberg, Norbert Furtmann, Jürgen Bajorath, Ulrike Bartz, Bernd Engels, Michael Mareš   +20 more
wiley   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source