hypogonadotropic hypogonadism

Literature (1)

Literature for DOID 0090070: hypogonadotropic hypogonadism

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development., Gordon CT,Xue S,Yigit G,Filali H,Chen K,Rosin N,Yoshiura KI,Oufadem M,Beck TJ,McGowan R,Magee AC,Altmüller J,Dion C,Thiele H,Gurzau AD,Nürnberg P,Meschede D,Mühlbauer W,Okamoto N,Varghese V,Irving R,Sigaudy S,Williams D,Ahmed SF,Bonnard C,Kong MK,Ratbi I,Fejjal N,Fikri M,Elalaoui SC,Reigstad H,Bole-Feysot C,Nitschké P,Ragge N,Lévy N,Tunçbilek G,Teo AS,Cunningham ML,Sefiani A,Kayserili H,Murphy JM,Chatdokmaiprai C,Hillmer AM,Wattanasirichaigoon D,Lyonnet S,Magdinier F,Javed A,Blewitt ME,Amiel J,Wollnik B,Reversade B, Nat Genet. February 1, 2017; 49(2):1546-1718.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development., Gordon CT,Xue S,Yigit G,Filali H,Chen K,Rosin N,Yoshiura KI,Oufadem M,Beck TJ,McGowan R,Magee AC,Altmüller J,Dion C,Thiele H,Gurzau AD,Nürnberg P,Meschede D,Mühlbauer W,Okamoto N,Varghese V,Irving R,Sigaudy S,Williams D,Ahmed SF,Bonnard C,Kong MK,Ratbi I,Fejjal N,Fikri M,Elalaoui SC,Reigstad H,Bole-Feysot C,Nitschké P,Ragge N,Lévy N,Tunçbilek G,Teo AS,Cunningham ML,Sefiani A,Kayserili H,Murphy JM,Chatdokmaiprai C,Hillmer AM,Wattanasirichaigoon D,Lyonnet S,Magdinier F,Javed A,Blewitt ME,Amiel J,Wollnik B,Reversade B, Nat Genet. February 1, 2017; 49(2):1546-1718.