Andrology, EarlyView.ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding +3 more
wiley +1 more source
Fraser Syndrome From Prenatal Diagnosis to Multidisciplinary Management and Long-Term Care: A Narrative Review. [PDF]
CureusRana S.
europepmc +1 more source
A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy
Clinical Genetics, EarlyView.PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady +3 more
wiley +1 more source
Involvement of tumor suppressor candidate 3 in mouse survival, craniofacial, and cortical development. [PDF]
G3 (Bethesda)Iyyanar PPR +5 more
europepmc +1 more source
Clinical Genetics, EarlyView.We describe a girl presenting with structural eye anomalies and a constellation of features suggestive of the mosaic RASopathy EncephaloCranioCutaneous Lipomatosis (ECCL). Tissue‐specific investigations identified a mosaic KRAS variant at a mutational hotspot (p.[Ala146Pro]), prompting appropriate tumour surveillance.
Karthikah Jeganathan +8 more
wiley +1 more source
Atypical Presentation of Undiagnosed Crouzon's Syndrome With Pansinusitis, Orbital Cellulitis, and Altered Mentation Successfully Managed With Functional Endoscopic Sinus Surgery: A Case Report. [PDF]
Case Rep Crit CareIssar P, Galav S, Goel R, Bhushan A.
europepmc +1 more source
Chromatin Remodeller BRD9 Orchestrates Odontoblastic Differentiation via Coordinating RUNX2‐KLF4
Cell Proliferation, EarlyView.During odontoblast lineage commitment, the chromatin remodeller BRD9 acts as a critical epigenetic coordinator, orchestrating the chromatin landscape to facilitate synergistic binding of key transcription factors RUNX2 and KLF4 to target loci for odontogenesis.
Wenrui Zeng +8 more
wiley +1 more source
Chromodomain helicase DNA-binding proteins and orofacial cleft. [PDF]
J Res Med SciDehghanian M +4 more
europepmc +1 more source
Temporomandibular joint disorder and gross motor function in children with cerebral palsy
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To determine the prevalence of the clinical signs and symptoms of temporomandibular joint (TMJ) disorder (TMD) in children with cerebral palsy (CP) and to examine their associations with severity of gross motor impairment, CP subtype, and caregiver‐reported bruxism. Method This cross‐sectional study included 517 children with CP (mean age =
Özge Baykan Çopuroğlu +2 more
wiley +1 more source
Fetal brain MRI analysis: Towards clinical translation and impact
Developmental Medicine &Child Neurology, EarlyView.Emerging AI‐based methods demonstrate the feasibility of automating image acquisition, motion correction and 3D reconstruction, segmentation, biometry, and quality control in fetal brain MRI, signaling a shift towards more quantitative assessment, and enabling precise characterization and assessment of the developing brain.
Aysha Luis +3 more
wiley +1 more source