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Nature Reviews Endocrinology, ISSN 1759-5029, 08/2018, Volume 14, Issue 8, pp. 476 - 500
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1694 - 1697
Pierre–Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key... 
atypical phenotype | Pierre–Robin sequence | TGDS | Catel–Manzke syndrome | fetal pathology | prenatal manifestation | SEQUENCE | GENETICS & HEREDITY | PHENOTYPE | PATIENT | Catel-Manzke syndrome | DESBUQUOIS DYSPLASIA | HYPERPHALANGISM | Pierre-Robin sequence | Tooth Abnormalities - diagnosis | Brachydactyly - physiopathology | Deafness - genetics | Tooth Abnormalities - physiopathology | Mouth Abnormalities - diagnosis | Pierre Robin Syndrome - physiopathology | Humans | Fingers - physiopathology | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Female | Hydro-Lyases - genetics | Fingers - abnormalities | Abnormalities, Multiple - genetics | Tooth Abnormalities - genetics | Prenatal Diagnosis | Deafness - physiopathology | Fetus - physiopathology | Mouth Abnormalities - genetics | Abnormalities, Multiple - physiopathology | Deafness - diagnosis | Pierre Robin Syndrome - diagnosis | Intellectual Disability - physiopathology | Pregnancy | Pierre Robin Syndrome - genetics | Hand Deformities, Congenital - genetics | Brachydactyly - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Brachydactyly - diagnosis | Heterozygote | Heart Defects, Congenital - physiopathology | Mutation | Mouth Abnormalities - physiopathology | Hypoplasia | Radiography | Edema | Prenatal diagnosis | Fetuses | Fingers & toes | Prenatal development | Gestation | Brachydactyly | Clubfoot
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2016, Volume 94, Issue S256, p. n/a
Purpose Weill‐Marchesani Syndrome (WMS) is a rare, multi‐system, connective tissue disorder characterised by short stature, brachydactyly and ocular... 
Glaucoma | Health aspects | Cataract | Myopia | Cataracts | Edema | Cornea | Complications | Blurring | Insertion | Damage prevention | Displacement | Visual perception | Eye | Connective tissues | Vision | Surgery | Consultation | Control valves | Children | Diagnosis | Brachydactyly | Lenses | Eye lens
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 03/2018, Volume 19, Issue 1, pp. 32 - 10
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 12721 - 6
Congenital hand malformations is rare and characterized by hand deformities. It is highly heterogeneous, both clinically and genetically, which complicates the... 
OCULODENTODIGITAL DYSPLASIA | LOCALIZATION | GENE | TYROSINE KINASE | MULTIDISCIPLINARY SCIENCES | BRACHYDACTYLY TYPE-B | CLASSIFICATION | MUTATIONS | ROR2 | IDENTIFICATION | RETINITIS-PIGMENTOSA | Congenital diseases | Etiology | Congenital defects | Gap junctions | Connexin 43 | Diagnosis | Mutation | Hand
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2011, Volume 155, Issue 4, pp. 880 - 884
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 08/2013, Volume 26, Issue 7-8, pp. 793 - 795
Journal Article
Human Mutation, ISSN 1059-7794, 08/2011, Volume 32, Issue 8, pp. 877 - 886
The NOG gene encodes noggin, a secreted polypeptide that is important for regulating multiple signaling pathways during human development, particularly in... 
NOG | noggin | proximal symphalangism | stapes ankylosis | Noggin | Stapes ankylosis | Proximal symphalangism | BMP SIGNALING INHIBITION | GENE-ENCODING NOGGIN | BRACHYDACTYLY TYPE-B | BONE MORPHOGENETIC PROTEINS | CONGENITAL STAPES ANKYLOSIS | CONDUCTIVE HEARING-LOSS | GENETICS & HEREDITY | TEUNISSEN-CREMERS-SYNDROME | CYSTINE KNOT PROTEIN | MULTIPLE SYNOSTOSES SYNDROME | Synostosis - metabolism | Hearing Loss - diagnosis | Stapes - abnormalities | Tarsal Bones - abnormalities | Carpal Bones - metabolism | Humans | Databases, Genetic | Foot Deformities, Congenital - genetics | Foot Deformities, Congenital - metabolism | Hand Deformities, Congenital - diagnosis | Synostosis - genetics | Hearing Loss - metabolism | Brachydactyly - metabolism | Hand Deformities, Congenital - metabolism | Carpal Bones - abnormalities | Foot Deformities, Congenital - diagnosis | Mutation - genetics | Syndrome | Polymorphism, Genetic | Hearing Loss - genetics | Carrier Proteins - genetics | Synostosis - diagnosis | Phenotype | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Brachydactyly - genetics | Brachydactyly - diagnosis | Tarsal Bones - metabolism | Ankylosis | Dysostosis | Noggin protein | NOG gene | Hand | Hearing loss | Cartilage | Signal transduction | Databases | Reviews | Nose | Mutation | Symphalangia | Joints | Brachydactyly
Journal Article
Journal of Clinical and Diagnostic Research, ISSN 2249-782X, 05/2016, Volume 10, Issue 5, pp. OL01 - OL01
Journal Article
Ophthalmic Plastic and Reconstructive Surgery, ISSN 0740-9303, 04/2016, Volume 33, Issue 3S Suppl 1, pp. S82 - S84
Journal Article