Results 41 to 50 of about 2,683 (132)

USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, Volume 110, Issue 3, Page 315-324, September 2026.
Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda, Amjad Khan, Bryce A. Mendelsohn, Noriko Miyake, Nobuhiko Okamoto, Naomichi Matsumoto, Patricia J. C. Knijnenburg, Johanna M. van Hagen, Jiddeke van de Kamp, Quinten Waisfisz, Bryn D. Webb   +10 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1783-1798, August 2026.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Delay in Diagnosis of Classical Homocystinuria

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (HCU) is an autosomal recessive disorder of methionine metabolism with a wide spectrum of severity and clinical presentation. Timely diagnosis facilitates prompt initiation of treatment, which reduces complications. Our aim was to identify the nature of the first clinical manifestation and time to subsequent diagnosis ...
Subadra Wanninayake, Reena Sharma, Diane Green, John Bassett, Tarekegn Geberhiwot, Charlotte Dawson   +5 more
wiley   +1 more source

Minimally invasive repair of the severe pectus excavatum in an infant

Journal of Pediatric Surgery Case Reports, 2019
Pectus excavatum is the most common congenital chest wall abnormality. Nuss et al., in 1998 described minimally invasive repair of pectus excavatum and this procedure is now the procedure of choice in many institutions for the surgical repair of pectus ...
Muharrem Özkaya, Mehmet Bilgin
doaj   +1 more source

Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Enzyme replacement therapy (ERT) with elosulfase alfa is the only approved treatment for mucopolysaccharidosis type IVA. This case report delineates the 5‐year outcomes of ERT in two Korean siblings with mucopolysaccharidosis type IVA, with the younger sibling initiating treatment at 0.8 years of age and the older one at 5.4 years.
Shinjie Choi, Hyoungmin Kim, Tae‐Joon Cho, Jung Min Ko   +3 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Repair of pectus deformities : Experience and outcome in 317 cases

Annals of Saudi Medicine, 2006
Background: The most common congenital chest wall deformities are pectus excavatum and pectus carinatum. Various techniques have been described for correction of pectus deformities.
Genc Onur, Gurkok Sedat, Gozubuyuk Alper, Dakak Mehmet, Caylak Hasan, Yucel Orhan   +5 more
doaj  

Exercise impairment in patients with pectus excavatum? A scoping review of evidence and role of arterial content change during effort

Physiological Reports, Volume 14, Issue 13, July 2026.
Abstract This scoping review describes cardiopulmonary fitness in non‐operated patients with pectus excavatum and maps the reporting of hemoglobin and arterial oxygen content during exercise. Four databases (PubMed, ScienceDirect, CINAHL, and SPORTDiscus) were searched from inception to February 15th, 2025.
Maxime Lokietek, Simon Lecoq, Laura Filaire, Bénédicte Noury‐Desvaux, Mariève Houle, Pierre Abraham   +5 more
wiley   +1 more source

Marfan syndrome associated to pectus carinatum: a case report from cartagena de indias. Colombia

Revista Ciencias Biomédicas, 2011
Marfan syndrome (MFS) is the most common connective tissue inherited disorder,transmitted as an autosomic dominant character. Mutation is located in FBN1 allele,that encodes to Fibrilin-1.
Malambo-García Dacia I, Mora-García Gustavo J., Pomares-Estrada José C, Gómez-García Cristian (q.e.p.d.), Gómez-Camargo Doris E.   +4 more
doaj  

A Case Report of Shwachman‐Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature Review

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
We report a neonatal SDS patient with earliest onset of symptoms. The c.2935C>T and c.3149_3151delCAC compound heterozygous variants reported in this study expand the mutational spectrum of this disease. ABSTRACT Objective This investigation reports on a Shwachman‐Diamond syndrome (SDS) case arising from compound heterozygous genetic variations ...
Xiaoying Zhou, Hongxin Li, Xinyi Yang, Chunli Wang, Wenting Zhang   +4 more
wiley   +1 more source