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Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndromeVATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysisSitus inversus totalis and congenital hypoglossiaMaternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expressionA boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndromeCyclopia-astomia-agnathia-holoprosencephaly association: a case reportA new case of interstitial deletion of chromosome 3q, del(3q)(q13.12q21.3), with agenesis of the corpus callosumThe Robinow (fetal face) syndrome: a continuing puzzleTrisomy 16 in a mid-trimester IVF foetus with multiple abnormalitiesTransverse limb deficiency, facial clefting and hypoxic renal damage: an association with treatment of maternal hypertension?A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumorA familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical featuresThe natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boyAnother case of achalasia-microcephaly syndromeThe Robinow (fetal face) syndromeA new case of Okamoto syndrome.Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review.Goldberg-Shprintzen syndrome: report of a new family and review of the literature.Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype.Kohlschutter syndrome in siblings.Evaluating the association between congenital cystic adenomatoid malformation of the lung and abdominal wall laxity.Three siblings with Woodhouse-Sakati syndrome in an Indian family.Characterization of a distinct syndrome that associates complex truncal overgrowth, vascular, and acral anomalies: a descriptive study of 18 cases of CLOVES syndrome.DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties.First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality.A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay.Further delineation of the classical Smith-Lemli-Opitz syndrome phenotype at different patient ages: clinical and biochemical studies.Terminal transverse limb defects with tethering and omphalocele in a 17 week fetus following first trimester misoprostol exposure.Brachydactyly type B: case report and further evidence for clinical heterogeneity.An apparently new acrocraniofacial syndrome with cranial nerve and visceral anomalies.Marshall-Smith syndrome: case report of a newborn male and review of the literature.Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence.Recurrence of the severe form of microgastria-limb reduction defect in a consanguineous family.Macrocephaly--cutis marmorata telangiectatica congenita: report of five patients and a review of the literature.MURCS association with encephalocele: report of a second case.High myopia, and mild mental retardation in three brothers.Brachydactyly type B with its distinct facies and 'Cooks syndrome' are the same entity.A second family with Micro syndrome.MOMO syndrome: a possible third case.
P1433
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P1433
description
journal
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revista científica
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rivista scientifica
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wetenschappelijk tijdschrift van Lippincott Williams & Wilkins
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wissenschaftliche Fachzeitschrift
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مجلة
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name
Clinical Dysmorphology
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Clinical Dysmorphology
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Clinical Dysmorphology
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Clinical Dysmorphology
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Clinical Dysmorphology
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type
label
Clinical Dysmorphology
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Clinical Dysmorphology
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Clinical Dysmorphology
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Clinical Dysmorphology
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Clinical Dysmorphology
@nl
prefLabel
Clinical Dysmorphology
@ast
Clinical Dysmorphology
@en
Clinical Dysmorphology
@es
Clinical Dysmorphology
@it
Clinical Dysmorphology
@nl
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Clinical Dysmorphology
@en