Spatiotemporal dynamics of urban park accessibility and demand–accessibility relationships in central Kunming: perspectives from multiple travel modes and dual-scale analysis

Zhiheng Li

doi:10.3389/ffgc.2026.1869240

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)

2026-07-07

0

OA

AI

S

Sally Nijim *

M

Mimi Kim

M

Melissa Denish

M

Michael V. Gonzalez

J

Joseph Zinski

C

Claudine Rieubland

D

Dominique Braun

E

Elsebet Østergaard

A

Amelle Shillington

L

Laurence Faivre

J

Julien Maraval

A

Aurore Garde

C

Christophe Philippe

F

Frederic Tran-Mau-Them

A

Amy Crunk

DOI：10.1016/j.gim.2026.102642

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Abstract

En 中文

TCF7L2 (OMIM:602228; HGNC:11641) is a transcription factor and critical effector of the Wnt /β -Catenin pathway. In 2021, 11 pediatric patients with mono-allelic predicted loss-of-function (pLOF) TCF7L2 variants and syndromic features were observed. Characterization of patients with pLOF TCF7L2 variants and neurodevelopmental features – herein referred to as TCF7L2-related neurodevelopmental disorder (TRND) – is urgently needed.

Keywords:

TCF7L2

TCF7L2-related neurodevelopmental disorder (TRND)

neurodevelopmental syndrome

speech delay

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)

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