P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype

P117: MCF2 missense variant in a patient with an Aarskog-Scott syndrome-like phenotype

Bibliographic Details
Main Authors:	Daniel Benavides, Donna Novacic, Maria Acosta
Format:	Article
Language:	English
Published:	Elsevier 2023-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774423001462

Similar Items

FGD1 Variant Associated With Aarskog–Scott Syndrome
by: Yilin Zhu, et al.
Published: (2022-07-01)

Aarskog-Scott syndrome: An unusual cause of scoliosis
by: Kerim Sariyilmaz, et al.
Published: (2017-01-01)

Female counterpart of shawl scrotum in aarskog-scott syndrome
by: Suzana G. Moraes, et al.
Published: (2006-08-01)

A rare case of short stature: Aarskog-Scott syndrome
by: Hanmayyagari Babul Reddy, et al.
Published: (2015-01-01)

Aarskog – Scott Syndrome: a Literature Review and Presentation of Clinical Case
by: Markin L., et al.
Published: (2013-06-01)

Anaesthetic considerations in Aarskog Scott Syndrome: A syndrome new to our understanding
by: Divya Gahlot, et al.
Published: (2021-01-01)

Identifying Aarskog Syndrome
by: Anis Ahmed, et al.
Published: (2016-12-01)

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study
by: Yijia Liang, et al.
Published: (2022-08-01)

Aarskog–Scott syndrome: A perspective on growth and the influence of growth hormone therapy: Case-based review of literature
by: Babulreddy Hanmayyagari, et al.
Published: (2015-01-01)

Caracterización fenotípica del Síndrome Aarskog
by: Elayne Esther Santana Hernández, et al.

Molecular Mechanisms and Clinical Phenotypes of <i>GJB2</i> Missense Variants
by: Lu Mao, et al.
Published: (2023-03-01)

A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
by: Brandon L Pierce, et al.
Published: (2019-03-01)

Missense variant contribution to USP9X-female syndrome
by: Lachlan A. Jolly, et al.
Published: (2020-12-01)

P641: Application of AlphaMissense prediction to pathogenicity classification of missense variants from clinical exome sequencing
by: Xinming Zhuo, et al.
Published: (2024-01-01)

P387: Missense variants in SRCAP: Expansion of phenotypic manifestations associated with non-FHLS SRCAP-related neurodevelopmental disorder
by: Victoria Huckestein, et al.
Published: (2024-01-01)

Case Report: A Novel Homozygous Missense Variant of FBN3 Supporting It Is a New Candidate Gene Causative of a Bardet–Biedl Syndrome–Like Phenotype
by: Maria Luce Genovesi, et al.
Published: (2022-07-01)

Correction: A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
by: Brandon L Pierce, et al.
Published: (2019-05-01)

Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome
by: Na Miao, et al.
Published: (2023-05-01)

ELN missense variant in patient with mid-aortic syndrome case report
by: Thao Nguyen Phan, et al.
Published: (2022-12-01)

P002: Investigating the impact of the 2022 ClinGen missense variant interpretation recommendations for cerebral creatine deficiency syndromes*
by: Emily Groopman, et al.
Published: (2024-01-01)

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant
by: Emma C. Bedoukian, et al.
Published: (2021-02-01)

An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.
by: Thomas W Marchant, et al.
Published: (2019-05-01)

Predicting valuable missense variants with AlphaMissense in a multiple pulmonary infection patient
by: Tianyuan Wang, et al.
Published: (2024-02-01)

AlphaMissense, a groundbreaking advancement in artificial intelligence for predicting the effects of missense variants
by: Ming Yi, et al.
Published: (2024-03-01)

P538: Missense variants and a mild non-lethal form of TARP?
by: Amiee Potter, et al.
Published: (2023-01-01)

Gene of the issue: ANO6 and Scott Syndrome
by: Sarah L. Millington-Burgess, et al.
Published: (2020-10-01)

Molecular Features of SLC26A4 Common Variant p.L117F
by: Arnoldas Matulevičius, et al.
Published: (2022-09-01)

P276: Monozygotic diamniotic twins homozygous for FAM20C missense variant causing lethal Raine syndrome
by: Sofia Catena, et al.
Published: (2024-01-01)

HPMPdb: A machine learning-ready database of protein molecular phenotypes associated to human missense variants
by: Daniele Raimondi, et al.
Published: (2022-01-01)

Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes
by: Daniele Velardo, et al.
Published: (2022-07-01)

Genotype/Phenotype Relationship in a Consanguineal Family With Brugada Syndrome Harboring the R1632C Missense Variant in the SCN5A Gene
by: Michelle M. Monasky, et al.
Published: (2019-05-01)

Analysis and Interpretation of the Impact of Missense Variants in Cancer
by: Maria Petrosino, et al.
Published: (2021-05-01)

FLNC missense variants in familial noncompaction cardiomyopathy
by: Jaap I. van Waning, et al.
Published: (2019-10-01)

Scott convergence and fuzzy Scott topology on L-posets
by: Liu Hongping, et al.
Published: (2017-06-01)

T117
by: A. Alexandrova, et al.
Published: (2015-11-01)

P348: De novo missense variants in ZBTB47 cause a neurodevelopmental phenotype of developmental delays, seizures, and possible movement abnormalities
by: Scott Ward, et al.
Published: (2023-01-01)

Discerning the Ambiguous Role of Missense <i>TTN</i> Variants in Inherited Arrhythmogenic Syndromes
by: Estefanía Martínez-Barrios, et al.
Published: (2022-02-01)

Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome
by: Malte Zorn, et al.
Published: (2022-06-01)

P617: Is it time to switch to AlphaMissense for in silico missense predictions?
by: Shruthi Mohan, et al.
Published: (2024-01-01)

Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome
by: Marina C. Gonsales, et al.
Published: (2019-03-01)