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Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Background Bartter syndrome (BS) is a salt-losing renal tubulopathy classically characterised by hypokalaemic metabolic alkalosis and hyperreninaemic hyperaldosteronism. Methods We investigated the ...
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Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

9 Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel 10 Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Background Constitutional mismatch repair deficiency syndrome ...
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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

Division of Endocrinology, Children’s Hospital Boston, Boston, Massachusetts, USA Dr B-L Wu, Department of Laboratory Medicine, Children’s Hospital Boston, 300 Longwood Ave, Boston, Massachusetts ...
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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

1 Department of Internal Medicine D, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel 2 Neurogenetics Clinic, Schneider Children's Medical Center of Israel, Petah Tikva, Israel 3 Sackler ...
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The molecular genetics of Marfan syndrome and related disorders

9 Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 10 Department of Internal Medicine, University of Texas Medical School at Houston, ...
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Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

1 Institut National de la Santé et de la Recherche Médicale (INSERM) UMR_S933, Université Pierre et Marie Curie (UPMC) - Paris 6; and Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital ...
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Prenatal clinical manifestations in individuals with COL4A1/2 variants

Background Variants in the type IV collagen gene ( COL4A1/2 ) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with ...
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Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Background The 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical ...
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Online First

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome ...
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Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism

1 MD/PhD and Experimental Medicine Programs, University of British Columbia and the British Columbia Research Institute for Children’s and Women’s Health, Vancouver, British Columbia, Canada 2 ...
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Female-to-male sex reversal associated with unique Xp21.2 deletion disrupting genomic regulatory architecture of the dosage-sensitive sex reversal region

Correspondence to Dr Svetlana A Yatsenko, Department of Pathology, University of Pittsburgh, Gynecology & Reproductive Sciences, School of Medicine, 300 Halket St, Room 1233, Pittsburgh, PA 15213, USA ...
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Double outlet right ventricle: aetiologies and associations

Background: Double outlet right ventricle (DORV), a clinically significant congenital heart defect, occurs in 1–3% of individuals with congenital heart defects. In contrast to other major congenital ...