Disease: Postaxial polydactyly mental retardation
- A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: additional support for a CHD locus at distal 13q34 region
- A girl with a mutation of the ciliary gene CC2D2A presenting with FSGS and nephronophthisis
- A multiple translocation event in a patient with hexadactyly, facial dysmorphism, mental retardation and behaviour disorder characterised comprehensively by molecular cytogenetics. Case report and review of the literature
- A novel <em>BBS10</em> mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak
- A novel compound heterozygous mutation in <em>TTC8</em> identified in a Japanese patient
- A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies
- A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure
- A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21
- A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome
- A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome
- Acrocallosal syndrome in fetus: focus on additional brain abnormalities
- Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease
- Application of quantitative fluorescent polymerase chain reaction analysis for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly, cyclopia, polydactyly, omphalocele and cell culture failure
- Associated anomalies in individuals with polydactyly
- Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms
- Bardet-Biedl syndrome
- Bardet-Biedl syndrome and Usher syndrome
- Bardet-biedl syndrome in a child with chronic kidney disease
- Bardet-Biedl Syndrome in an Ethiopian
- Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome
- Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome
- Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization
- Bardet-Biedl syndrome with syndrome X: a patient report
- Bardet-Biedl syndrome: aspects of nephro-urology and human genetics
- Bardet-Biedl syndrome: multiple fingers with multiple defects!
- BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment
- Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome
- Case Report: Biallelic Variant in the tRNA Methyltransferase Domain of the AlkB Homolog 8 Causes Syndromic Intellectual Disability
- Central precocious puberty occurring in Bardet-Biedl syndrome-10 as a method for self-protection of human reproductive function: A case report
- Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome
- Ciliopathy: Bardet-Biedl Syndrome
- Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter
- Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome
- Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families
- Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
- Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy
- De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models
- De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
- Development of patients with 47,XX,+13/45,X mosaics: case report and review of the literature
- Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses
- Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients
- Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7
- Female-restricted syndromic intellectual disability in a patient from Thailand
- Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi
- Genetic counseling in acrocallosal syndrome
- Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
- Gonadal mosaicism in severe Pallister-Hall syndrome
- Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome
- Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly
- Homozygous mutation in <em>CEP19,</em> a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
- Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly
- Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes
- Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies
- Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping
- Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly - A case report
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
- Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
- Intermediate interstitial deletion of chromosome 7q detected by first-trimester Down's syndrome screening
- Isolated postaxial polydactyly type B with mosaicism of a submicroscopic unbalanced translocation leading to an extended phenotype in offspring
- Laurence Moon Bardet Biedl Syndrome
- Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
- Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblings
- McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family
- Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures
- Microcephaly, distinctive facies, single atrium, postaxial polydactyly, skeletal defects and mental retardation: a new familial faciocardiomelic syndrome?
- MOLAR TOOTH SIGN AND ACROCALLOSAL SYNDROME--A REPORT ON A POLISH FAMILY AND REVIEW OF KIF7 SYNDROMOLOGY
- MPPH syndrome: two new cases
- Mutations in MKKS cause Bardet-Biedl syndrome
- New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
- New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review
- Novel homozygous protein-truncating mutation of BBS9 identified in a Chinese consanguineous family with Bardet-Biedl syndrome
- Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome
- OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
- Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report
- Orthopaedic manifestations of Bardet-Biedl syndrome
- Our experience with McKusick-Kaufman syndrome patients
- Parental consanguinity in specific types of congenital anomalies
- Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly
- Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
- Phenotypic variability in Patau syndrome
- Plasmolipin: genomic structure, chromosomal localization, protein expression pattern, and putative association with Bardet-Biedl syndrome
- Polydactyly with ectodermal defect, osteopenia, and mental delay
- Positive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly
- Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities
- Prenatal ultrasonography and postnatal follow-up of a case of McKusick-Kaufman syndrome
- Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft
- Rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction analysis in a pregnancy with fetal holoprosencephaly, premaxillary agenesis, postaxial polydactyly of left hand and overriding aorta
- Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease
- Rubinstein-Taybi syndrome (RTS) with postaxial polydactyly of the foot: 4-year follow-up until improvement of dysbasia
- Schinzel acrocallosal syndrome
- Schinzel-Giedion syndrome: a further cause of West syndrome
- Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74
- Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology
- Spectrum of the acrocallosal syndrome
- The clinical atlas of Greig cephalopolysyndactyly syndrome
- The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review
- The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly
- Two different presentations of de novo variants of CSNK2B: two case reports
- Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndrome
- Unilateral nystagmus in an infant with acrocallosal syndrome