Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the …

BL Callewaert, BL Loeys, A Ficcadenti… - Human …, 2009 - Wiley Online Library
Beals‐Hecht syndrome or congenital contractural arachnodactyly (CCA) is a rare, autosomal
dominant connective tissue disorder characterized by crumpled ears, arachnodactyly …

Arterial tortuosity syndrome: 40 new families and literature review

A Beyens, J Albuisson, A Boel, M Al-Essa… - Genetics in …, 2018 - nature.com
Purpose We delineate the clinical spectrum and describe the histology in arterial tortuosity
syndrome (ATS), a rare connective tissue disorder characterized by tortuosity of the large …

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

E Cottereau, I Mortemousque… - American Journal of …, 2013 - Wiley Online Library
Abstract Simpson–Golabi–Behmel syndrome (SGBS) is a rare X‐linked multiple congenital
abnormality/intellectual disability syndrome characterized by pre‐and post‐natal …

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus

S Jacquemont, A Reymond, F Zufferey, L Harewood… - Nature, 2011 - nature.com
Both obesity and being underweight have been associated with increased mortality,.
Underweight, defined as a body mass index (BMI)≤ 18.5 kg per m2 in adults and≤− 2 …

Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy

E Jacquemin, D Cresteil, S Manouvrier, O Boute… - The Lancet, 1999 - thelancet.com
and uric acid needs to be assessed. A report has shown that bezafibrate, another fibric acid
derivative, did not decrease CHD after a 5-year follow-up, which might be a first indication. 5 …

C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients

GWE Santen, E Aten, AT Vulto‐van Silfhout… - Human …, 2013 - Wiley Online Library
De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin–S iris syndrome (CSS), N icolaides–B araitser syndrome (NCBRS), and …

[HTML][HTML] Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

KP Hoornaert, I Vereecke, C Dewinter… - European journal of …, 2010 - nature.com
Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations
in different collagen genes. The aim of our study was to define more precisely the phenotype …

[HTML][HTML] Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with …

RLL de Lima, SA Hoper, M Ghassibe, ME Cooper… - Genetics in …, 2009 - nature.com
Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription
factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal …

[HTML][HTML] New insights into genotype–phenotype correlation for GLI3 mutations

F Démurger, A Ichkou, S Mougou-Zerelli… - European Journal of …, 2015 - nature.com
The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig
cephalopolysyndactyly syndrome (GCPS) and Pallister–Hall syndrome (PHS). PHS was first …

Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases

C Schluth-Bolard, B Delobel, D Sanlaville… - European journal of …, 2009 - Elsevier
Investigations of apparently balanced chromosomal rearrangements in patients with
abnormal phenotype by molecular cytogenetics tools, especially by array CGH, revealed a …