All individuals with variants in gene DLL4

22 entries on 1 page. Showing entries 1 - 22.
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00049874 - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) M no - - - 0 - - AOS left brachydactyly 3rd4th toes (confirmed by X-ray) 1 4 Johan den Dunnen
00049875 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affected sisters, unaffected carrier father M - - - - 0 - - Healthy/Control - 1 3 Johan den Dunnen
00049876 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (mother/daugther) F - - - - 0 - - AOS - 1 3 Johan den Dunnen
00049877 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, carrier status unaffected parents unknown F - - - - 0 - - AOS no further details 1 1 Johan den Dunnen
00049878 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - 0 - - AOS syndactyly 2nd/3rd toes, hypoplastic toe nails, brachydactyly toes 1 8 Johan den Dunnen
00049879 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (father/son) M - United Kingdom (Great Britain) - - 0 - - AOS no cardiac problems 1 2 Johan den Dunnen
00049881 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected (F), unaffected heterozygous carrier mother F - - - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00049882 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, unaffected non-carrier parents F - - - - 0 - - AOS short distal phalangus middle finger right hand, symphalangism index finger, symbrachydactyly both feet; truncus arteriosus, ventricular septum defect; growth hormone deficiency 1 1 Johan den Dunnen
00049883 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected, carrier status unaffected parents unknown M - - - - 0 - - AOS no further details 1 1 Johan den Dunnen
00049893 - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - 0 - - AOS short distal phalanges (not confirmed by X-ray) 1 1 Johan den Dunnen
00049894 - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - 0 - - AOS normal echocardiogram 1 1 Johan den Dunnen
00049895 - PubMed: Meester 2015, Journal: Meester 2015 3-generation family, 4 affecteds (3F, M) F no - - - 0 - - AOS brachydactyly, syndactyly 2nd/3rd toes right foot; tricuspid insufficiency, ventricular septum defect 1 1 Johan den Dunnen
00049896 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affected sisters, unaffected carrier father F - - - - 0 - - AOS ACC with underlying skull defect; brachydactyly left foot, missing toes right foot; normal echocardiogram 1 1 Johan den Dunnen
00049897 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affected sisters, unaffected carrier father F - - - - 0 - - AOS ACC with underlying skull defect; brachysyndactyly right foot, severe brachysyndactyly left foot; normal echocardiogram; small kidneys, mild hypertension 1 1 Johan den Dunnen
00049898 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (mother/daugther) F - - - - 0 - - AOS - 1 1 Johan den Dunnen
00049899 - PubMed: Meester 2015, Journal: Meester 2015 sister, no clinical information available F - - - - 0 - - - - 1 1 Johan den Dunnen
00049900 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - 0 - - AOS bald area on scal, cutis marmorata 1 1 Johan den Dunnen
00049901 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) F - - - - 0 - - AOS bald area on scalp; brachydactyly fingers/toes, syndactyly 2nd/3rd toes 1 1 Johan den Dunnen
00049902 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M), no clinical data F - - - - 0 - - ? bald area on scalp, no further clinical data 1 1 Johan den Dunnen
00049905 - PubMed: Meester 2015, Journal: Meester 2015 4-generation family, 8 affecteds (4F, 4M) M - - - - 0 - - AOS normal echocardiogram; cutis marmorata, epilepsy, learning difficulties, borderline intellectual function (TIQ 76) at young age, normal IQ at later age; mild periventricular leukomalacia 1 1 Johan den Dunnen
00049907 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 2 affecteds (father/son) M - United Kingdom (Great Britain) - - 0 - - AOS normal echocardiogram 1 1 Johan den Dunnen
00049908 - PubMed: Meester 2015, Journal: Meester 2015 2-generation family, 1 affected (F), unaffected heterozygous carrier mother F - - - - 0 - - AOS delayed ossification; hypoplastic toe nails; no cardiac problems; cutis marmorata; 2m-normal chest X-ray 1 1 Johan den Dunnen
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